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skladištenja glikogena – Bosnian" lang="bs" hreflang="bs" data-title="Bolest skladištenja glikogena" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target">Bosanski</a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Glicogenosi" title="Glicogenosi – Catalan" lang="ca" hreflang="ca" data-title="Glicogenosi" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target">Català</a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Glykogenspeicherkrankheit" title="Glykogenspeicherkrankheit – German" lang="de" hreflang="de" data-title="Glykogenspeicherkrankheit" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target">Deutsch</a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Glucogenosis" title="Glucogenosis – Spanish" lang="es" hreflang="es" data-title="Glucogenosis" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target">Español</a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%A8%DB%8C%D9%85%D8%A7%D8%B1%DB%8C%E2%80%8C%D9%87%D8%A7%DB%8C_%D8%B0%D8%AE%DB%8C%D8%B1%D9%87_%DA%AF%D9%84%DB%8C%DA%A9%D9%88%DA%98%D9%86" title="بیماری‌های ذخیره گلیکوژن – Persian" lang="fa" hreflang="fa" data-title="بیماری‌های ذخیره گلیکوژن" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target">فارسی</a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Maladie_g%C3%A9n%C3%A9tique_du_m%C3%A9tabolisme_des_glucides" title="Maladie génétique du métabolisme des glucides – French" lang="fr" hreflang="fr" data-title="Maladie génétique du métabolisme des glucides" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target">Français</a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EA%B8%80%EB%A6%AC%EC%BD%94%EC%A0%A0_%EC%B6%95%EC%A0%81%EB%B3%91" title="글리코젠 축적병 – Korean" lang="ko" hreflang="ko" data-title="글리코젠 축적병" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target">한국어</a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Glikogenoza" title="Glikogenoza – Croatian" lang="hr" hreflang="hr" data-title="Glikogenoza" data-language-autonym="Hrvatski" data-language-local-name="Croatian" class="interlanguage-link-target">Hrvatski</a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Penyakit_penyimpanan_glikogen" title="Penyakit penyimpanan glikogen – Indonesian" lang="id" hreflang="id" data-title="Penyakit penyimpanan glikogen" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target">Bahasa Indonesia</a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Glicogenosi" title="Glicogenosi – Italian" lang="it" hreflang="it" data-title="Glicogenosi" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target">Italiano</a></li><li class="interlanguage-link interwiki-ms mw-list-item"><a href="https://ms.wikipedia.org/wiki/Penyakit_penyimpanan_glikogen" title="Penyakit penyimpanan glikogen – Malay" lang="ms" hreflang="ms" data-title="Penyakit penyimpanan glikogen" data-language-autonym="Bahasa Melayu" data-language-local-name="Malay" class="interlanguage-link-target">Bahasa Melayu</a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Glycogeenstapelingsziekten" title="Glycogeenstapelingsziekten – Dutch" lang="nl" hreflang="nl" 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searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Glycogen storage disease</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Glycogenosis; dextrinosis</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><a href="/wiki/File:Glycogen_storage_disorder_(PAS_with_diastase).jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/0/0d/Glycogen_storage_disorder_%28PAS_with_diastase%29.jpg/220px-Glycogen_storage_disorder_%28PAS_with_diastase%29.jpg" decoding="async" width="220" height="165" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/0/0d/Glycogen_storage_disorder_%28PAS_with_diastase%29.jpg/330px-Glycogen_storage_disorder_%28PAS_with_diastase%29.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/0/0d/Glycogen_storage_disorder_%28PAS_with_diastase%29.jpg/440px-Glycogen_storage_disorder_%28PAS_with_diastase%29.jpg 2x" data-file-width="1024" data-file-height="768" /></a></td></tr><tr><td colspan="2" class="infobox-full-data">Glycogen storage disease in <a href="/wiki/Hepatocyte" title="Hepatocyte">hepatocytes</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Neuromuscular_medicine" title="Neuromuscular medicine">Neuromuscular medicine</a>; <a href="/wiki/Hepatology" title="Hepatology">hepatology</a>; <a href="/wiki/Medical_genetics" title="Medical genetics">medical genetics</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data">Biopsy shows either abnormal accumulation or deficit of glycogen</td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data">Genetic</td></tr></tbody></table> A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a <a href="/wiki/Metabolic_disorder" title="Metabolic disorder">metabolic disorder</a> caused by a deficiency of an <a href="/wiki/Enzyme" title="Enzyme">enzyme</a> or <a href="/wiki/Transport_protein" title="Transport protein">transport protein</a> affecting <a href="/wiki/Glycogen_synthesis" class="mw-redirect" title="Glycogen synthesis">glycogen synthesis</a>, <a href="/wiki/Glycogen_breakdown" class="mw-redirect" title="Glycogen breakdown">glycogen breakdown</a>, or <a href="/wiki/Glycolysis" title="Glycolysis">glucose breakdown</a>, typically in <a href="/wiki/Muscle" title="Muscle">muscles</a> and/or <a href="/wiki/Liver" title="Liver">liver</a> cells.<a href="#cite_note-1">[1]</a> GSD has two classes of cause: genetic and environmental. Genetic GSD is caused by any <a href="/wiki/Inborn_errors_of_carbohydrate_metabolism" title="Inborn errors of carbohydrate metabolism">inborn error of carbohydrate metabolism</a> (genetically defective enzymes or transport proteins) involved in these processes. In livestock, environmental GSD is caused by <a href="/wiki/Substance_intoxication" title="Substance intoxication">intoxication</a> with the <a href="/wiki/Alkaloid" title="Alkaloid">alkaloid</a> <a href="/wiki/Castanospermine" title="Castanospermine">castanospermine</a>.<a href="#cite_note-pmid7604496-2">[2]</a> However, not every inborn error of carbohydrate metabolism has been assigned a GSD number, even if it is known to affect the muscles or liver. For example, <a href="/wiki/Phosphoglycerate_kinase_deficiency" class="mw-redirect" title="Phosphoglycerate kinase deficiency">phosphoglycerate kinase deficiency</a> (gene PGK1) has a myopathic form. Also, <a href="/wiki/Fanconi%E2%80%93Bickel_syndrome" title="Fanconi–Bickel syndrome">Fanconi-Bickel syndrome</a> (gene SLC2A2) and <a href="/wiki/Danon_disease" title="Danon disease">Danon disease</a> (gene LAMP2) were declassed as GSDs due to being defects of <a href="/wiki/Transport_protein" title="Transport protein">transport proteins</a> rather than <a href="/wiki/Enzyme" title="Enzyme">enzymes</a>; however, <a href="/wiki/Glycogen_storage_disease_type_I" title="Glycogen storage disease type I">GSD-1</a> subtypes b, c, and d are due to defects of transport proteins (genes SLC37A4, SLC17A3) yet are still considered GSDs. <a href="/wiki/Phosphoglucomutase" title="Phosphoglucomutase">Phosphoglucomutase deficiency</a> (gene PGM1) was declassed as a GSD due to it also affecting the formation of N-glycans; however, as it affects both <a href="/wiki/Glycogenolysis" title="Glycogenolysis">glycogenolysis</a> and <a href="/wiki/Glycosylation" title="Glycosylation">glycosylation</a>, it has been suggested that it should re-designated as GSD-XIV.<a href="#cite_note-nejm.org-3">[3]</a> (See <a href="/wiki/Inborn_errors_of_carbohydrate_metabolism" title="Inborn errors of carbohydrate metabolism">inborn errors of carbohydrate metabolism</a> for a full list of inherited diseases that affect glycogen synthesis, glycogen breakdown, or glucose breakdown.) <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Types">Types</h2>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=1" title="Edit section: Types">edit</a>]</div> <div style="clear:both;" class=""></div> <table class="wikitable"> <tbody><tr> <th>Type (Eponym) </th> <th>Enzyme deficiency (Gene<a href="#cite_note-medbiochem-4">[4]</a>) </th> <th>Incidence (births) </th> <th><a href="/wiki/Hypoglycemia" title="Hypoglycemia">Hypo- glycemia</a>? </th> <th><a href="/wiki/Hepatomegaly" title="Hepatomegaly">Hepato- megaly</a>? </th> <th><a href="/wiki/Hyperlipidemia" title="Hyperlipidemia">Hyper- lipidemia</a>? </th> <th>Muscle symptoms </th> <th>Development/ prognosis </th> <th>Other symptoms </th></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_0" title="Glycogen storage disease type 0">GSD 0</a> (Lewis' disease)<a href="#cite_note-5">[5]</a> </td> <td><a href="/wiki/Glycogen_synthase" title="Glycogen synthase">Glycogen synthase</a> (Muscle <a href="/wiki/Glycogen_synthase" title="Glycogen synthase">GYS1</a> / Liver <a href="/wiki/GYS2" class="mw-redirect" title="GYS2">GYS2</a>) </td> <td>1 in 20,000–25,000<a href="#cite_note-6">[6]</a> </td> <td>Liver 0a: Yes Muscle 0b: No </td> <td>No </td> <td>No </td> <td>(Muscle 0b) Glycogen deficiency in muscle fibres. Type I muscle fibre predominance. Exercise-induced, muscle fatigue, myalgia, fainting.<a href="#cite_note-:26-7">[7]</a><a href="#cite_note-:25-8">[8]</a> Occasional <a href="/wiki/Muscle_cramp" class="mw-redirect" title="Muscle cramp">muscle cramping</a> [<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>] </td> <td>(Liver 0a) Growth failure in some cases.<a href="#cite_note-:27-9">[9]</a> (Muscle 0b) Risk of sudden death in childhood due to cardiac arrest.<a href="#cite_note-:26-7">[7]</a> </td> <td> (Liver 0a) Epilepsy<a href="#cite_note-:27-9">[9]</a> (Muscle 0b) Rarely epilepsy, tonic-clonic seizures.<a href="#cite_note-:26-7">[7]</a> Arrhythmia, long QT syndrome.<a href="#cite_note-:25-8">[8]</a> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_I" title="Glycogen storage disease type I">GSD I</a> / GSD 1 (<a href="/wiki/Von_Gierke%27s_disease" class="mw-redirect" title="Von Gierke's disease">von Gierke's disease</a>) </td> <td><a href="/wiki/Glucose-6-phosphatase" class="mw-redirect" title="Glucose-6-phosphatase">Glucose-6-phosphatase</a> / <a href="/wiki/Glucose-6-phosphate_translocase" class="mw-redirect" title="Glucose-6-phosphate translocase">Glucose-6-phosphate translocase</a> (<a href="/wiki/G6PC" title="G6PC">G6PC</a> / <a href="/wiki/SLC37A4" class="mw-redirect" title="SLC37A4">SLC37A4</a> /<a href="/wiki/SLC17A3" title="SLC17A3">SLC17A3</a>) </td> <td>1 in 50,000 – 100,000<a href="#cite_note-Roth-10">[10]</a><a href="#cite_note-11">[11]</a><a href="#cite_note-Glucose-6-Phosphate_dehydrogenase_d-12">[12]</a> </td> <td>Yes </td> <td>Yes </td> <td>Yes </td> <td>None </td> <td><a href="/wiki/Growth_failure" class="mw-redirect" title="Growth failure">Growth failure</a> </td> <td><a href="/wiki/Lactic_acidosis" title="Lactic acidosis">Lactic acidosis</a>, <a href="/wiki/Hyperuricemia" title="Hyperuricemia">hyperuricemia</a> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_II" title="Glycogen storage disease type II">GSD II</a> / GSD 2 (<a href="/wiki/Pompe_disease" class="mw-redirect" title="Pompe disease">Pompe disease</a>, formerly GSD-IIa) <hr /><a href="/wiki/Danon_disease" title="Danon disease">Danon disease</a> (formerly GSD-IIb) </td> <td><a href="/wiki/Acid_alpha-glucosidase" title="Acid alpha-glucosidase">Acid alpha-glucosidase</a> (<a href="/wiki/Acid_alpha-glucosidase" title="Acid alpha-glucosidase">GAA</a>) <hr /><a href="/wiki/LAMP2" title="LAMP2">Lysosome-associated membrane protein 2</a> (<a href="/wiki/LAMP2" title="LAMP2">LAMP2</a>) </td> <td>Pompe disease is 1 in 13,000.<a href="#cite_note-13">[13]</a> </td> <td>No </td> <td>Yes </td> <td>No </td> <td><a href="/wiki/Muscle_weakness" title="Muscle weakness">Muscle weakness</a>, <a href="/wiki/Exercise_intolerance" title="Exercise intolerance">exercise intolerance</a>, abnormal lysosomal glycogen accumulation in muscle biopsy. Late-onset Pompe may have a <a href="/wiki/Pseudoathletic_appearance" title="Pseudoathletic appearance">pseudoathletic appearance</a> of hypertrophic calf muscles.<a href="#cite_note-:18-14">[14]</a> The symptoms of both Pompe and Danon diseases are very similar due to a defect in lysosomes. However, in Danon disease, some show abnormal glycogen accumulation, but not all.<a href="#cite_note-15">[15]</a> </td> <td>Progressive proximal skeletal muscle weakness with varied timeline to threshold of functional limitation (early childhood to adulthood). Approximately 15% of the Pompe population is classified as infantile Pompe which is typically deadly within the first year if untreated. </td> <td><a href="/wiki/Heart_failure" title="Heart failure">Heart failure</a> (infantile), respiratory difficulty (due to muscle weakness) </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_III" title="Glycogen storage disease type III">GSD III</a> / GSD 3 (<a href="/wiki/Cori%27s_disease" class="mw-redirect" title="Cori's disease">Cori's disease</a> or <a href="/wiki/Forbes%27_disease" class="mw-redirect" title="Forbes' disease">Forbes' disease</a>) </td> <td><a href="/wiki/Glycogen_debranching_enzyme" title="Glycogen debranching enzyme">Glycogen debranching enzyme</a> (<a rel="nofollow" class="external text" href="https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=321">AGL</a> <a rel="nofollow" class="external text" href="https://web.archive.org/web/20171204222946/https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=321">Archived</a> 2017-12-04 at the <a href="/wiki/Wayback_Machine" title="Wayback Machine">Wayback Machine</a>) </td> <td>1 in 100,000 </td> <td>Yes </td> <td>Yes </td> <td>Yes </td> <td>Myopathy. May have a <a href="/wiki/Pseudoathletic_appearance" title="Pseudoathletic appearance">pseudoathletic appearance</a> of hypertrophic muscles.<a href="#cite_note-:8-16">[16]</a> </td> <td><a href="/wiki/Failure_to_thrive" title="Failure to thrive">Failure to thrive</a><a href="#cite_note-Tegay_2022_m937-17">[17]</a> </td> <td> myogenic <a href="/wiki/Hyperuricemia" title="Hyperuricemia">hyperuricemia</a><a href="#cite_note-:0-18">[18]</a> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_IV" title="Glycogen storage disease type IV">GSD IV</a> / GSD 4 (<a href="/wiki/Andersen%27s_disease" class="mw-redirect" title="Andersen's disease">Andersen's disease</a>) </td> <td><a href="/wiki/Glycogen_branching_enzyme" title="Glycogen branching enzyme">Glycogen branching enzyme</a> (<a href="/wiki/GBE1" class="mw-redirect" title="GBE1">GBE1</a>) </td> <td>1 in 500,000<a href="#cite_note-ceaccp.oxfordjournals.org-19">[19]</a> </td> <td>No </td> <td>Yes, also <a href="/wiki/Cirrhosis" title="Cirrhosis">cirrhosis</a> </td> <td>No </td> <td>Myopathy and dilated cardiomyopathy </td> <td><a href="/wiki/Failure_to_thrive" title="Failure to thrive">Failure to thrive</a>, death at age ~5 years </td> <td> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_V" title="Glycogen storage disease type V">GSD V</a> / GSD 5 (<a href="/wiki/McArdle%27s_disease" class="mw-redirect" title="McArdle's disease">McArdle's disease</a>) </td> <td><a href="/wiki/Muscle_glycogen_phosphorylase" class="mw-redirect" title="Muscle glycogen phosphorylase">Muscle glycogen phosphorylase</a> (<a href="/wiki/Myophosphorylase" title="Myophosphorylase">PYGM</a>) </td> <td>1 in 100,000 – 500,000<a href="#cite_note-20">[20]</a><a href="#cite_note-ceaccp.oxfordjournals.org-19">[19]</a> </td> <td>No </td> <td>No </td> <td>No </td> <td>Exercise-induced muscle fatigue and cramps. <a href="/wiki/Rhabdomyolysis" title="Rhabdomyolysis">Rhabdomyolysis</a> possible. May have a <a href="/wiki/Pseudoathletic_appearance" title="Pseudoathletic appearance">pseudoathletic appearance</a> of hypertrophic calf muscles.<a href="#cite_note-:11-21">[21]</a> </td> <td> </td> <td><a href="/wiki/Renal_failure" class="mw-redirect" title="Renal failure">Renal failure</a> by <a href="/wiki/Myoglobinuria" title="Myoglobinuria">myoglobinuria</a>, <a href="/wiki/Second_wind_phenomenon" class="mw-redirect" title="Second wind phenomenon">second wind phenomenon</a>, inappropriate rapid heart rate (<a href="/wiki/Sinus_tachycardia" title="Sinus tachycardia">sinus tachycardia</a>) response to exercise, myogenic <a href="/wiki/Hyperuricemia" title="Hyperuricemia">hyperuricemia</a><a href="#cite_note-:0-18">[18]</a> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_VI" title="Glycogen storage disease type VI">GSD VI</a> / GSD 6 (<a href="/wiki/Hers%27_disease" class="mw-redirect" title="Hers' disease">Hers' disease</a>) </td> <td><a href="/wiki/Liver_glycogen_phosphorylase" class="mw-redirect" title="Liver glycogen phosphorylase">Liver glycogen phosphorylase</a> (<a href="/wiki/PYGL" title="PYGL">PYGL</a>) </td> <td>1 in 65,000 – 85,000<a href="#cite_note-Ierardi-Curto-22">[22]</a> </td> <td>Yes </td> <td>Yes </td> <td>Yes<a href="#cite_note-23">[23]</a> </td> <td>None </td> <td>initially benign, developmental delay follows. </td> <td> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_VII" class="mw-redirect" title="Glycogen storage disease type VII">GSD VII</a> / GSD 7 (<a href="/wiki/Tarui%27s_disease" class="mw-redirect" title="Tarui's disease">Tarui's disease</a>) </td> <td><a href="/wiki/Phosphofructokinase_1" title="Phosphofructokinase 1">Muscle phosphofructokinase</a> (<a href="/wiki/PFKM" title="PFKM">PFKM</a>) </td> <td>1 in 1,000,000<a href="#cite_note-24">[24]</a> </td> <td>No </td> <td>No </td> <td>No </td> <td>Exercise-induced muscle cramps and weakness </td> <td><a href="/wiki/Developmental_disability" title="Developmental disability">developmental delay</a> </td> <td>In some <a href="/wiki/Haemolytic_anaemia" class="mw-redirect" title="Haemolytic anaemia">haemolytic anaemia</a>, myogenic <a href="/wiki/Hyperuricemia" title="Hyperuricemia">hyperuricemia</a><a href="#cite_note-:0-18">[18]</a> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_IX" title="Glycogen storage disease type IX">GSD IX</a> / GSD 9 </td> <td><a href="/wiki/Phosphorylase_kinase" title="Phosphorylase kinase">Phosphorylase kinase</a> (<a href="/wiki/PHKA2" title="PHKA2">PHKA2</a> / <a href="/wiki/PHKB" title="PHKB">PHKB</a> / <a href="/wiki/PHKG2" title="PHKG2">PHKG2</a> / <a href="/wiki/PHKA1" class="mw-redirect" title="PHKA1">PHKA1</a>) </td> <td>? </td> <td>Yes </td> <td>Yes </td> <td>Yes </td> <td>IXd Exercise-induced muscle cramps, stiffness, weakness (fatigue), and pain.<a href="#cite_note-25">[25]</a> </td> <td>Liver type: <a href="/wiki/Delayed_motor_development" class="mw-redirect" title="Delayed motor development">Delayed motor development</a>, <a href="/wiki/Developmental_disability" title="Developmental disability">Developmental delay</a> </td> <td> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_X" class="mw-redirect" title="Glycogen storage disease type X">GSD X</a> / GSD 10 </td> <td><a href="/wiki/Phosphoglycerate_mutase" title="Phosphoglycerate mutase">Muscle Phosphoglycerate mutase</a>(<a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/gene/PGAM2">PGAM2</a>) </td> <td>? </td> <td>? </td> <td>? </td> <td>? </td> <td>Exercise-induced muscle cramps and weakness<a href="#cite_note-:21-26">[26]</a> </td> <td> </td> <td>Myoglobinuria<a href="#cite_note-27">[27]</a> </td></tr> <tr> <td><a href="/wiki/Glycogen_storage_disease_type_XI" class="mw-redirect" title="Glycogen storage disease type XI">GSD XI</a> / GSD 11 </td> <td><a href="/wiki/Lactate_dehydrogenase" title="Lactate dehydrogenase">Muscle lactate dehydrogenase</a> (<a href="/wiki/LDHA" class="mw-redirect" title="LDHA">LDHA</a>) </td> <td>? </td> <td>? </td> <td>? </td> <td>? </td> <td> Exercise-induced muscle cramps, stiffness, pain.<a href="#cite_note-28">[28]</a> </td> <td> </td> <td> </td></tr> <tr> <td><a href="/wiki/Fanconi-Bickel_syndrome" class="mw-redirect" title="Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a> formerly <a href="/wiki/Glycogen_storage_disease_type_XI" class="mw-redirect" title="Glycogen storage disease type XI">GSD XI</a> / GSD 11, no longer considered a GSD </td> <td><a href="/wiki/Glucose_transporter" title="Glucose transporter">Glucose transporter</a> (<a href="/wiki/GLUT2" title="GLUT2">GLUT2</a>) </td> <td>? </td> <td>Yes </td> <td> Yes </td> <td>No </td> <td>None </td> <td> </td> <td> </td></tr> <tr> <td>GSD XII / GSD 12 (<a href="/wiki/Aldolase_A_deficiency" title="Aldolase A deficiency">Aldolase A deficiency</a>) </td> <td><a href="/wiki/Aldolase_A" title="Aldolase A">Aldolase A</a> (<a href="/wiki/ALDOA" class="mw-redirect" title="ALDOA">ALDOA</a>) </td> <td>? </td> <td>No </td> <td>In some </td> <td>No </td> <td><a href="/wiki/Exercise_intolerance" title="Exercise intolerance">Exercise intolerance</a>, <a href="/wiki/Cramps" class="mw-redirect" title="Cramps">cramps</a>. In some Rhabdomyolysis. </td> <td> </td> <td>Hemolytic anemia and <a href="/wiki/Aldolase_A_deficiency#Symptoms_and_signs" title="Aldolase A deficiency">other symptoms</a> </td></tr> <tr> <td><a href="/w/index.php?title=Glycogen_storage_disease_type_XIII&action=edit&redlink=1" class="new" title="Glycogen storage disease type XIII (page does not exist)">GSD XIII</a> / GSD 13 </td> <td><a href="/wiki/Enolase" title="Enolase">β-enolase</a> (<a href="/wiki/ENO3" title="ENO3">ENO3</a>) </td> <td>? </td> <td>No </td> <td>? </td> <td>No </td> <td><a href="/wiki/Exercise_intolerance" title="Exercise intolerance">Exercise intolerance</a>, <a href="/wiki/Cramps" class="mw-redirect" title="Cramps">cramps</a> </td> <td>Increasing intensity of <a href="/wiki/Myalgia" title="Myalgia">myalgias</a> over decades<a href="#cite_note-Httpneuromuscularwustledumsysglycogenhtmlenolase-29">[29]</a> </td> <td><a href="/wiki/Creatine_kinase" title="Creatine kinase">Serum CK</a>: Episodic elevations; Reduced with rest<a href="#cite_note-Httpneuromuscularwustledumsysglycogenhtmlenolase-29">[29]</a> </td></tr> <tr> <td><a href="/wiki/Congenital_disorder_of_glycosylation" title="Congenital disorder of glycosylation">CDG</a>1T (formally GSD XIV / GSD 14) </td> <td><a href="/wiki/Phosphoglucomutase" title="Phosphoglucomutase">Phosphoglucomutase-1</a>(<a href="/wiki/PGM1" title="PGM1">PGM1</a>) </td> <td>? </td> <td>Episodic </td> <td>? </td> <td>No </td> <td>Two forms: exclusively myopathic and multi-system (including muscles).<a href="#cite_note-:9-30">[30]</a> Myopathy (including exercise-related fatigue, <a href="/wiki/Exercise_intolerance" title="Exercise intolerance">exercise intolerance</a>, muscle weakness). Muscle biopsy shows glycogen accumulation.<a href="#cite_note-:1-31">[31]</a> </td> <td>Short stature, some have developmental delay, and rarely delayed puberty.<a href="#cite_note-:1-31">[31]</a> </td> <td>Highly variable phenotype and severity. Commonly elevated serum CK, abnormal serum transferrin (loss of complete N-glycans), short stature, cleft palate, bifid uvula, and hepatopathy.<a href="#cite_note-:1-31">[31]</a> <a href="/wiki/Second_wind" title="Second wind">Second Wind</a> phenomenon in some<a href="#cite_note-:10-32">[32]</a> but not all<a href="#cite_note-nejm.org-3">[3]</a> </td></tr> <tr> <td><a href="/w/index.php?title=Glycogen_storage_disease_type_XV&action=edit&redlink=1" class="new" title="Glycogen storage disease type XV (page does not exist)">GSD XV</a> / GSD 15 </td> <td><a href="/wiki/Glycogenin-1" title="Glycogenin-1">Glycogenin-1</a> (<a href="/wiki/GYG1" class="mw-redirect" title="GYG1">GYG1</a>) </td> <td>Rare<a href="#cite_note-Malfatti2014-33">[33]</a> </td> <td>No </td> <td>No </td> <td>No </td> <td>Muscle atrophy, exercise intolerance, muscle biopsy shows abnormal glycogen depletion and marked proliferation of slow-twitch (type 1/oxidative) muscle fibres and mitochondrial proliferation. </td> <td>Slowly progressive weakness over decades </td> <td>Arrhythmia, biopsy of heart showed abnormal glycogen deposits (different from polyglucosan bodies) in cardiomyocytes.<a href="#cite_note-34">[34]</a> </td></tr></tbody></table> <ul><li>Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset).[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li> <li>Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D.<a href="#cite_note-medbiochem-4">[4]</a></li> <li>GSD type 0: Although <a href="/wiki/Glycogen_synthase" title="Glycogen synthase">glycogen synthase</a> deficiency does not result in storage of extra glycogen in the liver, it is classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li> <li>GSD type VIII (GSD 8): In the past, liver phosphorylase-b kinase deficiency was considered a distinct condition,<a href="#cite_note-pmid4508182-35">[35]</a> however it has been classified with GSD type VI<a href="#cite_note-Ierardi-Curto-22">[22]</a> and GSD IXa1;<a href="#cite_note-36">[36]</a> it has been described as <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> inherited.<a href="#cite_note-urlDefinition:_glycogen_storage_disease_type_VIII_from_Online_Medical_Dictionary-37">[37]</a> GSD IX has become the dominant classification for this disease, grouped with the other isoenzymes of phosphorylase-b kinase deficiency.<a href="#cite_note-38">[38]</a></li> <li>GSD type XI (GSD 11): <a href="/wiki/Fanconi-Bickel_syndrome" class="mw-redirect" title="Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a> (GLUT2 deficiency), hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease, but a defect of glucose transport.<a href="#cite_note-medbiochem-4">[4]</a> The designation of GSD type XI (GSD 11) has been repurposed for <a href="/wiki/Lactate_dehydrogenase#Genetics" title="Lactate dehydrogenase">muscle lactate dehydrogenase deficiency</a> (LDHA).[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li> <li>GSD type XIV (GSD 14): No longer classed as a GSD, but as a <a href="/wiki/Congenital_disorder_of_glycosylation" title="Congenital disorder of glycosylation">congenital disorder of glycosylation</a> type 1T (CDG1T), affects the phosphoglucomutase enzyme (gene PGM1).<a href="#cite_note-medbiochem-4">[4]</a> <a href="/wiki/Phosphoglucomutase#Disease_relevance" title="Phosphoglucomutase">Phosphoglucomutase 1 deficiency</a> is both a glycogenosis and a congenital disorder of glycosylation.<a href="#cite_note-:2-39">[39]</a> Individuals with the disease have both a glycolytic block as muscle glycogen cannot be broken down, as well as abnormal serum transferrin (loss of complete N-glycans).<a href="#cite_note-:2-39">[39]</a> As it affects glycogenolysis, it has been suggested that it should re-designated as GSD-XIV.<a href="#cite_note-nejm.org-3">[3]</a></li> <li><a href="/wiki/Lafora_disease" title="Lafora disease">Lafora disease</a> is considered a complex neurodegenerative disease and also a glycogen metabolism disorder.<a href="#cite_note-40">[40]</a></li> <li>Polyglucosan storage myopathies are associated with defective glycogen metabolism<a href="#cite_note-41">[41]</a></li> <li>(Not McArdle disease, same gene but different symptoms) Myophosphorylase-a activity impaired: Autosomal dominant mutation on PYGM gene. AMP-independent myophosphorylase activity impaired, whereas the AMP-dependent activity was preserved. No exercise intolerance. Adult-onset muscle weakness. Accumulation of the intermediate filament desmin in the myofibers of the patients.<a href="#cite_note-42">[42]</a><a href="#cite_note-43">[43]</a> Myophosphorylase comes in two forms: form 'a' is phosphorylated by phosphorylase kinase, form 'b' is not phosphorylated. Both forms have two <a href="/wiki/Conformational_change" title="Conformational change">conformational</a> states: active (R or relaxed) and inactive (T or tense). When either form 'a' or 'b' are in the active state, then the enzyme converts glycogen into glucose-1-phosphate. Myophosphorylase-b is allosterically activated by AMP being in larger concentration than ATP and/or glucose-6-phosphate. (See <a href="/wiki/Glycogen_phosphorylase#Regulation" title="Glycogen phosphorylase">Glycogen phosphorylase§Regulation</a>).</li> <li>Unknown glycogenosis related to dystrophy gene deletion: patient has a previously undescribed myopathy associated with both Becker muscular dystrophy and a glycogen storage disorder of unknown aetiology.<a href="#cite_note-44">[44]</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=2" title="Edit section: Diagnosis">edit</a>]</div> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Glycogen_storage_disease_in_liver_-_high_mag.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Glycogen_storage_disease_in_liver_-_high_mag.jpg/220px-Glycogen_storage_disease_in_liver_-_high_mag.jpg" decoding="async" width="220" height="147" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Glycogen_storage_disease_in_liver_-_high_mag.jpg/330px-Glycogen_storage_disease_in_liver_-_high_mag.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Glycogen_storage_disease_in_liver_-_high_mag.jpg/440px-Glycogen_storage_disease_in_liver_-_high_mag.jpg 2x" data-file-width="4272" data-file-height="2848" /></a><figcaption><a href="/wiki/Micrograph" title="Micrograph">Micrograph</a> of glycogen storage disease with <a href="/wiki/Histology" title="Histology">histologic</a> features consistent with <a href="/wiki/Cori_disease" class="mw-redirect" title="Cori disease">Cori disease</a>. <a href="/wiki/Liver_biopsy" title="Liver biopsy">Liver biopsy</a>. <a href="/wiki/H%26E_stain" title="H&E stain">H&E stain</a>.</figcaption></figure> Methods to diagnose glycogen storage diseases include <a href="/wiki/Medical_history" title="Medical history">history</a> and <a href="/wiki/Physical_examination" title="Physical examination">physical examination</a> for associated symptoms, <a href="/wiki/Blood_test" title="Blood test">blood tests</a> for associated metabolic disturbances, and <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a> for suspected mutations.<a href="#cite_note-:8-16">[16]</a><a href="#cite_note-:5-45">[45]</a> It may also include a non-ischemic forearm test, <a href="/wiki/Exercise_stress_test" class="mw-redirect" title="Exercise stress test">exercise stress test</a>, or 12-minute walk test (12MWT).<a href="#cite_note-:5-45">[45]</a> Advancements in genetic testing are slowly diminishing the need for biopsy; however, in the event of a <a href="/wiki/Variant_of_uncertain_significance" title="Variant of uncertain significance">VUS</a> and inconclusive exercise tests, a biopsy would then be necessary to confirm diagnosis.<a href="#cite_note-:5-45">[45]</a> <div class="mw-heading mw-heading3"><h3 id="Differential_diagnosis">Differential diagnosis</h3>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=3" title="Edit section: Differential diagnosis">edit</a>]</div> <div class="mw-heading mw-heading4"><h4 id="Muscle">Muscle</h4>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=4" title="Edit section: Muscle">edit</a>]</div> Glycogen storage diseases that involve skeletal muscle typically have exercise-induced (<a href="/wiki/Signs_and_symptoms#Dynamic_and_static" title="Signs and symptoms">dynamic</a>) symptoms, such as premature <a href="/wiki/Muscle_fatigue" title="Muscle fatigue">muscle fatigue</a>, rather than fixed <a href="/wiki/Muscle_weakness" title="Muscle weakness">weakness</a> (<a href="/wiki/Signs_and_symptoms#Dynamic_and_static" title="Signs and symptoms">static</a>) symptoms.<a href="#cite_note-:12-46">[46]</a> Differential diagnoses for glycogen storage diseases that involve fixed muscle weakness, particularly of the <a href="/wiki/Proximal" class="mw-redirect" title="Proximal">proximal</a> muscles, would be an <a href="/wiki/Inflammatory_myopathy" title="Inflammatory myopathy">inflammatory myopathy</a> or a <a href="/wiki/Limb%E2%80%93girdle_muscular_dystrophy" title="Limb–girdle muscular dystrophy">limb-girdle muscular dystrophy</a>.<a href="#cite_note-:12-46">[46]</a> For those with exercise intolerance and/or proximal muscle weakness, the <a href="/wiki/Endocrinopathies" class="mw-redirect" title="Endocrinopathies">endocrinopathies</a> should be considered.<a href="#cite_note-47">[47]</a><a href="#cite_note-:13-48">[48]</a><a href="#cite_note-:14-49">[49]</a> The timing of the symptoms of exercise intolerance, such as muscle fatigue and cramping, is important in order to help distinguish it from other <a href="/wiki/Metabolic_myopathy" title="Metabolic myopathy">metabolic myopathies</a> such as <a href="/wiki/Fatty-acid_metabolism_disorder" title="Fatty-acid metabolism disorder">fatty acid metabolism disorders</a>.<a href="#cite_note-50">[50]</a> Problems originating within the circulatory system, rather than the muscle itself, can produce exercise-induced muscle fatigue, pain and cramping that alleviates with rest, resulting from inadequate blood flow (<a href="/wiki/Ischemia" title="Ischemia">ischemia</a>) to the muscles. Ischemia that often produces symptoms in the leg muscles includes <a href="/wiki/Intermittent_claudication" title="Intermittent claudication">intermittent claudication</a>, <a href="/wiki/Popliteal_artery_entrapment_syndrome" title="Popliteal artery entrapment syndrome">popliteal artery entrapment syndrome</a>, and <a href="/wiki/Chronic_venous_insufficiency" title="Chronic venous insufficiency">chronic venous insufficiency</a>. Diseases disrupting the neuromuscular junction can cause abnormal muscle fatigue, such as <a href="/wiki/Myasthenia_gravis" title="Myasthenia gravis">myasthenia gravis</a>, an autoimmune disease.<a href="#cite_note-51">[51]</a> Similar, are <a href="/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome" title="Lambert–Eaton myasthenic syndrome">Lambert–Eaton myasthenic syndrome</a> (autoimmune) and the <a href="/wiki/Congenital_myasthenic_syndrome" title="Congenital myasthenic syndrome">congenital myasthenic syndromes</a> (genetic). Diseases can disrupt glycogen metabolism <a href="/wiki/Disease#Concepts" title="Disease">secondary</a> to the primary disease. Abnormal thyroid function—hypo- and hyperthyroidism—can manifest as myopathy with symptoms of exercise-induced muscle fatigue, cramping, muscle pain and may include proximal weakness or muscle hypertrophy (particularly of the calves).<a href="#cite_note-52">[52]</a><a href="#cite_note-:13-48">[48]</a> <a href="/wiki/Hypothyroidism" title="Hypothyroidism">Hypothyroidism</a> up-regulates glycogen synthesis and down-regulates glycogenolysis and glycolysis; conversely, <a href="/wiki/Hyperthyroidism" title="Hyperthyroidism">hyperthyroidism</a> does the reverse, up-regulating glycogenolysis and glycolysis while down-regulating glycogen synthesis.<a href="#cite_note-:15-53">[53]</a><a href="#cite_note-:16-54">[54]</a><a href="#cite_note-55">[55]</a><a href="#cite_note-:13-48">[48]</a><a href="#cite_note-:17-56">[56]</a> Prolonged hypo- and hyperthyroid myopathy leads to atrophy of type II (fast-twitch/glycolytic) <a href="/wiki/Skeletal_muscle#Fiber_types" title="Skeletal muscle">muscle fibres</a>, and a predominance of type I (slow-twitch/oxidative) muscle fibres.<a href="#cite_note-:16-54">[54]</a><a href="#cite_note-:13-48">[48]</a><a href="#cite_note-:14-49">[49]</a> Muscle biopsy shows abnormal muscle glycogen: high accumulation in hypothyroidism and low accumulation in hyperthyroidism.<a href="#cite_note-:17-56">[56]</a><a href="#cite_note-:15-53">[53]</a><a href="#cite_note-:16-54">[54]</a> Hypothyroid myopathy includes <a href="/wiki/Kocher%E2%80%93Debre%E2%80%93Semelaigne_syndrome" title="Kocher–Debre–Semelaigne syndrome">Kocher-Debre-Semelaigne syndrome</a> (childhood-onset), <a href="/wiki/Hoffmann_syndrome" title="Hoffmann syndrome">Hoffman syndrome</a> (adult-onset), myasthenic syndrome, and atrophic form.<a href="#cite_note-:17-56">[56]</a> In patients with increased growth hormone, muscle biopsy includes, among other features, excess glycogen deposition.<a href="#cite_note-57">[57]</a> EPG5-related <a href="/wiki/Vici_syndrome" title="Vici syndrome">Vici syndrome</a> is a multisystem disorder, a congenital disorder of <a href="/wiki/Autophagy" title="Autophagy">autophagy</a>, with muscle biopsy showing excess glycogen accumulation, among other myopathic features.<a href="#cite_note-58">[58]</a> It is interesting to note, in comparison to hypothyroid myopathy, that McArdle disease (<a href="/wiki/Glycogen_storage_disease_type_V" title="Glycogen storage disease type V">GSD-V</a>), which is by far the most commonly diagnosed of the muscle GSDs and therefore the most studied,<a href="#cite_note-:19-59">[59]</a><a href="#cite_note-:5-45">[45]</a><a href="#cite_note-:6-60">[60]</a> has as its second highest <a href="/wiki/Comorbidity" title="Comorbidity">comorbidity</a> endocrine disease (chiefly hypothyroidism)<a href="#cite_note-61">[61]</a><a href="#cite_note-:5-45">[45]</a> and that some patients with McArdle disease also have hypertrophy of the calf muscles.<a href="#cite_note-:11-21">[21]</a> Late-onset Pompe disease (<a href="/wiki/Glycogen_storage_disease_type_II" title="Glycogen storage disease type II">GSD-II</a>) also has calf hypertrophy and hypothyroidism as comorbidities.<a href="#cite_note-:18-14">[14]</a><a href="#cite_note-62">[62]</a><a href="#cite_note-63">[63]</a> Poor diet and <a href="/wiki/Malabsorption" title="Malabsorption">malabsorption</a> diseases (such as celiac disease) may lead to malnutrition of essential vitamins necessary for glycogen metabolism within the muscle cells. Malnutrition typically presents with systemic symptoms, but in rare instances can be limited to myopathy.<a href="#cite_note-64">[64]</a> <a href="/wiki/Vitamin_D_deficiency" title="Vitamin D deficiency">Vitamin D deficiency</a> myopathy (also known as <a href="/wiki/Osteomalacia" title="Osteomalacia">osteomalic</a> myopathy due to the interplay between vitamin D and calcium) results in muscle weakness, predominantly of the proximal muscles; with muscle biopsy showing abnormal glycogen accumulation, atrophy of type II (fast-twitch/glycolytic) muscle fibres, and diminished calcium uptake by the sarcoplasmic reticulum (needed for muscle contraction).<a href="#cite_note-:20-65">[65]</a><a href="#cite_note-66">[66]</a><a href="#cite_note-67">[67]</a> Although Vitamin D deficiency myopathy typically includes muscle atrophy,<a href="#cite_note-:20-65">[65]</a> rarely calf muscle hypertrophy has been reported.<a href="#cite_note-68">[68]</a><a href="#cite_note-69">[69]</a> Exercise-induced, electrically silent, muscle cramping and stiffness (transient muscle contractures or "pseudomyotonia") are seen not only in GSD types V, VII, IXd, X, XI, XII, and XIII, but also in <a href="/wiki/Brody_myopathy" title="Brody myopathy">Brody disease</a>, <a href="/w/index.php?title=Rippling_muscle_disease&action=edit&redlink=1" class="new" title="Rippling muscle disease (page does not exist)">Rippling muscle disease</a> types 1 and 2, and <a href="/wiki/Caveolin_3" title="Caveolin 3">CAV3</a>-related hyperCKemia (Elevated serum creatine phosphokinase).<a href="#cite_note-:21-26">[26]</a> Unlike the other myopathies, in Brody disease the muscle cramping is painless.<a href="#cite_note-:22-70">[70]</a><a href="#cite_note-71">[71]</a> Like GSD types II, III, and V, a pseudoathletic appearance of muscle hypertrophy is also seen in some with Brody disease and Rippling muscle disease.<a href="#cite_note-:22-70">[70]</a><a href="#cite_note-72">[72]</a><a href="#cite_note-73">[73]</a> Erythrocyte lactate transporter defect (formerly Lactate transporter defect, myopathy due to) also includes exercise-induced, electrically silent, painful muscle cramping and transient contractures; as well as exercise-induced muscle fatigue.<a href="#cite_note-:21-26">[26]</a><a href="#cite_note-:23-74">[74]</a> EMG and muscle biopsy is normal however, as the defect is not in the muscle but in the red blood cells that should clear lactate buildup from exercising muscles.<a href="#cite_note-:23-74">[74]</a> Although most muscular dystrophies have fixed muscle weakness rather than exercise-induced muscle fatigue and/or cramping, there are a few exceptions. Limb–girdle muscular dystrophy autosomal recessive 23 (LGMD R23) has calf hypertrophy and exercise-induced cramping.<a href="#cite_note-75">[75]</a> Myofibrillar myopathy 10 (MFM10) has exercise-induced muscle fatigue, cramping and stiffness, with hypertrophic neck and shoulder girdle muscles.<a href="#cite_note-76">[76]</a> LGMD R28 has calf hypertrophy and exercise-induced muscle fatigue and pain.<a href="#cite_note-77">[77]</a> LGMD R8 has calf pseudohypertrophy and exercise-induced weakness (fatigue) and pain.<a href="#cite_note-78">[78]</a> LGMD R15 (a.k.a MDDGC3) has muscle hypertrophy, proximal muscle weakness, and muscle fatigue.<a href="#cite_note-79">[79]</a> DMD-related myopathies of <a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a> and <a href="/wiki/Becker_muscular_dystrophy" title="Becker muscular dystrophy">Becker muscular dystrophy</a> are known for fixed muscle weakness and pseudohypertrophic calf muscles, but they also have secondary <a href="/wiki/Mitochondrial_myopathy" title="Mitochondrial myopathy">muscular mitochondrial impairment</a> causing low ATP production; as well as decreasing type II (fast-twitch/glycolytic) muscle fibres, producing a predominance of type I (slow-twitch/oxidative) muscle fibres.<a href="#cite_note-80">[80]</a> DMD-related childhood-onset milder phenotypes present with exercise-induced muscle cramping, stiffness, pain, fatigue, and elevated CK.<a href="#cite_note-81">[81]</a> Becker muscular dystrophy has adult-onset exercise-induced muscle cramping, pain, and elevated CK.<a href="#cite_note-82">[82]</a> <a href="/w/index.php?title=Tubular_aggregate_myopathy&action=edit&redlink=1" class="new" title="Tubular aggregate myopathy (page does not exist)">Tubular aggregate myopathy</a> (TAM) types 1 and 2 has exercise-induced muscle pain, fatigue, stiffness, with proximal muscle weakness and calf muscle pseudohypertrophy. TAM1 has cramping at rest, while TAM2 has cramping during exercise.<a href="#cite_note-83">[83]</a><a href="#cite_note-:24-84">[84]</a><a href="#cite_note-85">[85]</a><a href="#cite_note-86">[86]</a> Stormorken syndrome includes the symptoms of TAM, but is a more severe presentation including short stature and other abnormalities.<a href="#cite_note-:24-84">[84]</a> <a href="/wiki/Satoyoshi_syndrome" title="Satoyoshi syndrome">Satoyoshi syndrome</a> has exercise-induced painful muscle cramps, muscle hypertrophy, and short stature.<a href="#cite_note-87">[87]</a> Dimethylglycine dehydrogenase deficiency has muscle fatigue, elevated CK, and fishy body odour.<a href="#cite_note-88">[88]</a> Myopathy with myalgia, increased serum creatine kinase, with or without episodic rhabdomyolysis (MMCKR) has exercise-induced muscle cramps, pain, and fatigue; with some exhibiting proximal muscle weakness.<a href="#cite_note-89">[89]</a> <div class="mw-heading mw-heading4"><h4 id="Liver">Liver</h4>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=5" title="Edit section: Liver">edit</a>]</div> (help wikipedia by contributing to this subsection) Glycogenosis-like phenotype of <a href="/wiki/Congenital_hyperinsulinism" title="Congenital hyperinsulinism">congenital hyperinsulinism</a> due to <a href="/wiki/Hepatocyte_nuclear_factor_4_alpha" title="Hepatocyte nuclear factor 4 alpha">HNF4A</a> mutation or <a href="/wiki/MODY_1" title="MODY 1">MODY1</a> (maturity-onset diabetes of the young, type 1). This phenotype of MODY1 has <a href="/wiki/Large_for_gestational_age" title="Large for gestational age">macrosomia</a> and infantile-onset hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum levels, increased level of glycogen in liver and erythrocytes, increased liver transaminases, transient <a href="/wiki/Hepatomegaly" title="Hepatomegaly">hepatomegaly</a>, renal <a href="/wiki/Fanconi_syndrome" title="Fanconi syndrome">Fanconi syndrome</a>, and later develop liver cirrhosis, decreased succinate-dependent respiration (mitochondrial dysfunction), rickets, <a href="/wiki/Nephrocalcinosis" title="Nephrocalcinosis">nephrocalcinosis</a>, chronic kidney disease, and diabetes.<a href="#cite_note-90">[90]</a><a href="#cite_note-91">[91]</a><a href="#cite_note-92">[92]</a> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=6" title="Edit section: Treatment">edit</a>]</div> Treatment is dependent on the type of glycogen storage disease. Von Gierke disease (<a href="/wiki/Glycogen_storage_disease_type_I" title="Glycogen storage disease type I">GSD-I</a>) is typically treated with frequent small meals of <a href="/wiki/Carbohydrates" class="mw-redirect" title="Carbohydrates">carbohydrates</a> and <a href="/wiki/Cornstarch" class="mw-redirect" title="Cornstarch">cornstarch</a>, called <a href="/wiki/Modified_cornstarch_therapy" title="Modified cornstarch therapy">modified cornstarch therapy</a>, to prevent low blood sugar, while other treatments may include <a href="/wiki/Allopurinol" title="Allopurinol">allopurinol</a> and <a href="/wiki/Human_granulocyte_colony_stimulating_factor" class="mw-redirect" title="Human granulocyte colony stimulating factor">human granulocyte colony stimulating factor</a>.<a href="#cite_note-Rare2017-93">[93]</a> Cori/Forbes disease (<a href="/wiki/Glycogen_storage_disease_type_III" title="Glycogen storage disease type III">GSD-III</a>) treatment may use modified cornstarch therapy, a high protein diet with a preference to complex carbohydrates. However, unlike GSD-I, <a href="/wiki/Gluconeogenesis" title="Gluconeogenesis">gluconeogenesis</a> is functional, so simple sugars (sucrose, fructose, and lactose) are not prohibited.<a href="#cite_note-:8-16">[16]</a> A ketogenic diet has demonstrated beneficial for McArdle disease (<a href="/wiki/Glycogen_storage_disease_type_V" title="Glycogen storage disease type V">GSD-V</a>) as ketones readily convert to acetyl CoA for oxidative phosphorylation, whereas free fatty acids take a few minutes to convert into acetyl CoA.<a href="#cite_note-94">[94]</a><a href="#cite_note-95">[95]</a> For <a href="/wiki/Phosphoglucomutase#Disease_relevance" title="Phosphoglucomutase">phosphoglucomutase deficiency</a> (formerly GSD-XIV), D-galactose supplements and exercise training has shown favourable improvement of signs and symptoms.<a href="#cite_note-:9-30">[30]</a> In terms of exercise training, some patients with phosphoglucomutase deficiency also experience "second wind."<a href="#cite_note-:9-30">[30]</a><a href="#cite_note-:10-32">[32]</a> For McArdle disease (GSD-V), regular aerobic exercise utilizing "<a href="/wiki/Second_wind" title="Second wind">second wind</a>" to enable the muscles to become aerobically conditioned, as well as anaerobic exercise (strength training) that follows the activity adaptations so as not to cause muscle injury, helps to improve exercise intolerance symptoms and maintain overall health.<a href="#cite_note-:5-45">[45]</a><a href="#cite_note-:6-60">[60]</a><a href="#cite_note-:3-96">[96]</a><a href="#cite_note-:4-97">[97]</a> Studies have shown that regular low-moderate aerobic exercise increases peak power output, increases peak oxygen uptake (<a href="/wiki/VO2_max" title="VO2 max">V̇O2</a>peak), lowers heart rate, and lowers serum CK in individuals with McArdle disease.<a href="#cite_note-:3-96">[96]</a><a href="#cite_note-:4-97">[97]</a> Regardless of whether the patient experiences <a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">symptoms</a> of muscle pain, muscle fatigue, or cramping, the phenomenon of second wind having been achieved is demonstrable by the <a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">sign</a> of an increased heart rate dropping while maintaining the same speed on the treadmill.<a href="#cite_note-:4-97">[97]</a> Inactive patients experienced second wind, demonstrated through relief of typical symptoms and the sign of an increased heart rate dropping, while performing low-moderate aerobic exercise (walking or brisk walking).<a href="#cite_note-:4-97">[97]</a> Conversely, patients that were regularly active did not experience the typical symptoms during low-moderate aerobic exercise (walking or brisk walking), but still demonstrated second wind by the sign of an increased heart rate dropping.<a href="#cite_note-:4-97">[97]</a><a href="#cite_note-:7-98">[98]</a> For the regularly active patients, it took more strenuous exercise (very brisk walking/jogging or bicycling) for them to experience both the typical symptoms and relief thereof, along with the sign of an increased heart rate dropping, demonstrating second wind.<a href="#cite_note-:4-97">[97]</a><a href="#cite_note-:7-98">[98]</a><a href="#cite_note-99">[99]</a> In young children (<10 years old) with McArdle disease (GSD-V), it may be more difficult to detect the second wind phenomenon. They may show a normal heart rate, with normal or above normal peak cardio-respiratory capacity (<a href="/wiki/VO2_max" title="VO2 max">V̇O2max</a>).<a href="#cite_note-:5-45">[45]</a><a href="#cite_note-100">[100]</a> That said, patients with McArdle disease typically experience symptoms of exercise intolerance before the age of 10 years,<a href="#cite_note-:5-45">[45]</a> with the median symptomatic age of 3 years.<a href="#cite_note-:19-59">[59]</a><a href="#cite_note-101">[101]</a> Tarui disease (<a href="/wiki/Phosphofructokinase_deficiency" title="Phosphofructokinase deficiency">GSD-VII</a>) patients do not experience the "second wind" phenomenon; instead are said to be "out-of-wind."<a href="#cite_note-:5-45">[45]</a><a href="#cite_note-:6-60">[60]</a><a href="#cite_note-102">[102]</a> However, they can achieve sub-maximal benefit from lipid metabolism of free fatty acids during aerobic activity following a warm-up.<a href="#cite_note-:5-45">[45]</a> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=7" title="Edit section: Epidemiology">edit</a>]</div> <figure typeof="mw:File/Thumb"><a href="/wiki/File:Relative_incidences_of_glycogen_storage_diseases.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/b/b8/Relative_incidences_of_glycogen_storage_diseases.png/250px-Relative_incidences_of_glycogen_storage_diseases.png" decoding="async" width="250" height="125" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/b8/Relative_incidences_of_glycogen_storage_diseases.png/375px-Relative_incidences_of_glycogen_storage_diseases.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/b8/Relative_incidences_of_glycogen_storage_diseases.png/500px-Relative_incidences_of_glycogen_storage_diseases.png 2x" data-file-width="1219" data-file-height="609" /></a><figcaption>Relative incidences of the main types of glycogen storage disease</figcaption></figure> Overall, according to a study in <a href="/wiki/British_Columbia" title="British Columbia">British Columbia</a>, approximately 2.3 children per 100,000 births (1 in 43,000) have some form of glycogen storage disease.<a href="#cite_note-BC-103">[103]</a> In the United States, they are estimated to occur in 1 per 20,000–25,000 births.<a href="#cite_note-Roth-10">[10]</a> Dutch incidence rate is estimated to be 1 per 40,000 births. While a Mexican incidence showed 6.78:1000 male newborns.<a href="#cite_note-Glucose-6-Phosphate_dehydrogenase_d-12">[12]</a><a href="#cite_note-104">[104]</a> Within the category of muscle glycogenoses (muscle GSDs), McArdle disease (GSD-V) is by far the most commonly diagnosed.<a href="#cite_note-:19-59">[59]</a> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=8" title="Edit section: See also">edit</a>]</div> <ul><li><a href="/wiki/Metabolic_myopathy" title="Metabolic myopathy">Metabolic myopathies</a></li> <li><a href="/wiki/Inborn_errors_of_carbohydrate_metabolism" title="Inborn errors of carbohydrate metabolism">Inborn errors of carbohydrate metabolism</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=9" title="Edit section: References">edit</a>]</div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist reflist-columns references-column-width reflist-columns-2"> <ol class="references"> <li id="cite_note-1"><a href="#cite_ref-1">^</a> <style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFCantú-ReynaSantos-GuzmánCruz-CaminoVazquez_Cantu2019" class="citation journal cs1">Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. 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Pediatrics. 105 (1): e10. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1542%2Fpeds.105.1.e10">10.1542/peds.105.1.e10</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10617747">10617747</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:30266513">30266513</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Pediatrics&rft.atitle=Incidence+of+inborn+errors+of+metabolism+in+British+Columbia%2C+1969%E2%80%931996&rft.volume=105&rft.issue=1&rft.pages=e10&rft.date=2000-01&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A30266513%23id-name%3DS2CID&rft_id=info%3Apmid%2F10617747&rft_id=info%3Adoi%2F10.1542%2Fpeds.105.1.e10&rft.aulast=Applegarth&rft.aufirst=DA&rft.au=Toone%2C+JR&rft.au=Lowry%2C+RB&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGlycogen+storage+disease" class="Z3988"> </li> <li id="cite_note-104"><a href="#cite_ref-104">^</a> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFCantú-ReynaZepedaMontemayorBenavides2016" class="citation journal cs1">Cantú-Reyna, Consuelo; Zepeda, Luis Manuel; Montemayor, René; Benavides, Santiago; González, Héctor Javier; Vázquez-Cantú, Mercedes; Cruz-Camino, Héctor (27 September 2016). <a rel="nofollow" class="external text" href="http://www.scielo.br/pdf/jiems/v4/2326-4594-jiems-4-e150013.pdf">"Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital"</a> (PDF). Journal of Inborn Errors of Metabolism and Screening. 4: 232640981666902. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1177%2F2326409816669027">10.1177/2326409816669027</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Inborn+Errors+of+Metabolism+and+Screening&rft.atitle=Incidence+of+Inborn+Errors+of+Metabolism+by+Expanded+Newborn+Screening+in+a+Mexican+Hospital&rft.volume=4&rft.pages=232640981666902&rft.date=2016-09-27&rft_id=info%3Adoi%2F10.1177%2F2326409816669027&rft.aulast=Cant%C3%BA-Reyna&rft.aufirst=Consuelo&rft.au=Zepeda%2C+Luis+Manuel&rft.au=Montemayor%2C+Ren%C3%A9&rft.au=Benavides%2C+Santiago&rft.au=Gonz%C3%A1lez%2C+H%C3%A9ctor+Javier&rft.au=V%C3%A1zquez-Cant%C3%BA%2C+Mercedes&rft.au=Cruz-Camino%2C+H%C3%A9ctor&rft_id=http%3A%2F%2Fwww.scielo.br%2Fpdf%2Fjiems%2Fv4%2F2326-4594-jiems-4-e150013.pdf&rfr_id=info%3Asid%2Fen.wikipedia.org%3AGlycogen+storage+disease" class="Z3988"> </li> </ol></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2>[<a href="/w/index.php?title=Glycogen_storage_disease&action=edit&section=10" title="Edit section: External links">edit</a>]</div> <ul><li><a rel="nofollow" class="external text" href="https://agsdus.org">AGSD</a>. - Association for Glycogen Storage Disease. A US-based non-profit, parent and patient oriented support group dedicated to promoting the best interest of all the different types of glycogen storage disease.</li> <li><a rel="nofollow" class="external text" href="https://agsd.org.uk/">AGSD-UK</a> - Association for Glycogen Storage Disease (UK). A UK-based charity which helps individuals and families affected by Glycogen Storage Disease by putting people in contact, providing information and support, publishing a magazine and holding conferences, workshops, courses and family events.</li> <li><a rel="nofollow" class="external text" href="https://www.iamgsd.org">IamGSD</a> - International Association for Muscle Glycogen Storage Disease. A non-profit, patient-led international group encouraging efforts by research and medical professionals, national support groups and individual patients worldwide.</li> <li><a rel="nofollow" class="external text" href="https://worldpompe.org">IPA</a> - International Pompe Association. (Pompe Disease is also known as GSD-II). A non-profit, federation of Pompe disease patient's groups world-wide. It seeks to coordinate activities and share experience and knowledge between different groups.</li> <li><a rel="nofollow" class="external text" href="https://www.euromacregistry.eu/">EUROMAC</a> - EUROMAC is a European registry of patients affected by McArdle Disease and other rare neuromuscular glycogenoses.</li> <li><a rel="nofollow" class="external text" href="https://research.sanfordhealth.org/rare-disease-registry">CoRDS</a> - Coordination of Rare Diseases at Sanford (CoRDS) is a centralized international patient registry for all rare diseases. They work with patient advocacy groups, including IamGSD, individuals and researchers.</li> <li><a rel="nofollow" class="external text" href="http://www.raredisorders.ca/">CORD</a> - Canadian Organization for Rare Disorders (CORD) is a Canadian national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders.</li> <li><a rel="nofollow" class="external text" href="https://rarediseases.org">NORD</a> - National Organization for Rare Disorders (NORD) is an American national non-profit patient advocacy organization that is dedicated to individuals with rare diseases and the organizations that serve them.</li> <li><a rel="nofollow" class="external text" href="https://www.eurordis.org">EURODIS</a> - Rare Diseases Europe (EURODIS) is a unique, non-profit alliance of over 700 rare disease patient organizations across Europe that work together to improve the lives of the 30 million people living with a rare disease in Europe.</li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 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.hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output .hlist.inline ul,.mw-parser-output .hlist dl dl,.mw-parser-output .hlist dl ol,.mw-parser-output .hlist dl ul,.mw-parser-output .hlist ol dl,.mw-parser-output .hlist ol ol,.mw-parser-output .hlist ol ul,.mw-parser-output .hlist ul dl,.mw-parser-output .hlist ul ol,.mw-parser-output .hlist ul ul{display:inline}.mw-parser-output .hlist .mw-empty-li{display:none}.mw-parser-output .hlist dt::after{content:": "}.mw-parser-output .hlist dd::after,.mw-parser-output .hlist li::after{content:" · ";font-weight:bold}.mw-parser-output .hlist dd:last-child::after,.mw-parser-output .hlist dt:last-child::after,.mw-parser-output .hlist li:last-child::after{content:none}.mw-parser-output .hlist dd dd:first-child::before,.mw-parser-output .hlist dd dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q1421738" class="extiw" title="d:Q1421738">D</a></div><div class="hlist" style="text-align:left;"><ul><li><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/E74.0">E74.0</a></li><li><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=271.0">271.0</a></li><li><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D006008">D006008</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Inborn_error_of_carbohydrate_metabolism:_monosaccharide_metabolism_disorders_Including_glycogen_storage_diseases_(GSD)" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output 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title="Inborn errors of carbohydrate metabolism">carbohydrate metabolism</a>: <a href="/wiki/Monosaccharide" title="Monosaccharide">monosaccharide</a> metabolism disorders Including <a class="mw-selflink selflink">glycogen storage diseases</a> (GSD)</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Sucrose" title="Sucrose">Sucrose</a>, transport (extracellular)</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Disaccharide" title="Disaccharide">Disaccharide</a> catabolism</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lactose_intolerance" title="Lactose intolerance">Congenital alactasia</a></li> <li><a href="/wiki/Sucrose_intolerance" title="Sucrose intolerance">Sucrose intolerance</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Monosaccharide" title="Monosaccharide">Monosaccharide</a> transport</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Glucose-galactose_malabsorption" title="Glucose-galactose malabsorption">Glucose-galactose malabsorption</a></li> <li><a href="/wiki/Inborn_errors_of_renal_tubular_transport" title="Inborn errors of renal tubular transport">Inborn errors of renal tubular transport</a> (<a href="/wiki/Renal_glycosuria" title="Renal glycosuria">Renal glycosuria</a>)</li> <li><a href="/wiki/Fructose_malabsorption" title="Fructose malabsorption">Fructose malabsorption</a></li> <li><a href="/wiki/GLUT1_deficiency" title="GLUT1 deficiency">De Vivo Disease</a> (GLUT1 deficiency)</li> <li><a href="/wiki/Fanconi-Bickel_syndrome" class="mw-redirect" title="Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a> (GLUT2 deficiency)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hexose" title="Hexose">Hexose</a> → <a href="/wiki/Glucose" title="Glucose">glucose</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Monosaccharide_catabolism" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Monosaccharide" title="Monosaccharide">Monosaccharide</a> catabolism</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Fructose" title="Fructose">Fructose</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Essential_fructosuria" title="Essential fructosuria">Essential fructosuria</a></li> <li><a href="/wiki/Hereditary_fructose_intolerance" title="Hereditary fructose intolerance">Fructose intolerance</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Galactose" title="Galactose">Galactose</a> / <a href="/wiki/Galactosemia" title="Galactosemia">galactosemia</a>:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Galactokinase_deficiency" title="Galactokinase deficiency">GALK deficiency</a></li> <li><a href="/wiki/Galactose-1-phosphate_uridylyltransferase_deficiency" title="Galactose-1-phosphate uridylyltransferase deficiency">GALT deficiency</a>/<a href="/wiki/Galactose_epimerase_deficiency" title="Galactose epimerase deficiency">GALE deficiency</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Glucose" title="Glucose">Glucose</a> ⇄ <a href="/wiki/Glycogen" title="Glycogen">glycogen</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Glycogenesis" title="Glycogenesis">Glycogenesis</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Glycogen_storage_disease_type_0" title="Glycogen storage disease type 0">GSD type 0</a> (glycogen synthase deficiency)</li> <li><a href="/wiki/Glycogen_storage_disease_type_IV" title="Glycogen storage disease type IV">GSD type IV</a> (Andersen's disease, branching enzyme deficiency)</li> <li><a href="/wiki/Adult_polyglucosan_body_disease" title="Adult polyglucosan body disease">Adult polyglucosan body disease</a> (APBD)</li> <li><a href="/wiki/Lafora_disease" title="Lafora disease">Lafora disease</a></li> <li><a href="/w/index.php?title=GSD_type_XV&action=edit&redlink=1" class="new" title="GSD type XV (page does not exist)">GSD type XV</a> (glycogenin deficiency)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Glycogenolysis" title="Glycogenolysis">Glycogenolysis</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Extralysosomal:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Glycogen_storage_disease_type_III" title="Glycogen storage disease type III">GSD type III</a> (Cori's disease, debranching enzyme deficiency)</li> <li><a href="/wiki/Glycogen_storage_disease_type_VI" title="Glycogen storage disease type VI">GSD type VI</a> (Hers' disease, liver glycogen phosphorylase deficiency)</li> <li><a href="/wiki/Glycogen_storage_disease_type_V" title="Glycogen storage disease type V">GSD type V</a> (McArdle's disease, myophosphorylase deficiency)</li> <li><a href="/wiki/Glycogen_storage_disease_type_IX" title="Glycogen storage disease type IX">GSD type IX</a> (phosphorylase kinase deficiency)</li> <li><a href="/wiki/Phosphoglucomutase#Disease_relevance" title="Phosphoglucomutase">Phosphoglucomutase deficiency</a> (PGM1-CDG, CDG1T, formerly GSD-XIV)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lysosome" title="Lysosome">Lysosomal</a> (<a href="/wiki/Lysosomal_storage_disease" title="Lysosomal storage disease">LSD</a>):</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Glycogen_storage_disease_type_II" title="Glycogen storage disease type II">Glycogen storage disease type II</a> (Pompe's disease, glucosidase deficiency, formerly GSD-IIa)</li> <li><a href="/wiki/Danon_disease" title="Danon disease">Danon disease</a> (LAMP2 deficiency, formerly GSD-IIb)</li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Glucose" title="Glucose">Glucose</a> ⇄ <a href="/wiki/Citric_acid_cycle" title="Citric acid cycle">CAC</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Glycolysis" title="Glycolysis">Glycolysis</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/MODY_2" title="MODY 2">MODY 2</a>/<a href="/wiki/Hyperinsulinemic_hypoglycemia" title="Hyperinsulinemic hypoglycemia">HHF3</a></li> <li><a href="/wiki/Phosphofructokinase_deficiency" title="Phosphofructokinase deficiency">GSD type VII</a> (Tarui's disease, phosphofructokinase deficiency)</li> <li><a href="/wiki/Triosephosphate_isomerase_deficiency" title="Triosephosphate isomerase deficiency">Triosephosphate isomerase deficiency</a></li> <li><a href="/wiki/Pyruvate_kinase_deficiency" title="Pyruvate kinase deficiency">Pyruvate kinase deficiency</a></li> <li><a href="/wiki/Aldolase_A_deficiency" title="Aldolase A deficiency">Aldolase A deficiency</a></li> <li>Phosphoglucose isomerase deficiency</li> <li>Phosphoglycerate kinase deficiency</li> <li><a href="/wiki/MPC1" class="mw-redirect" title="MPC1">Mitochondrial pyruvate carrier deficiency</a> (MPC1 deficiency)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Gluconeogenesis" title="Gluconeogenesis">Gluconeogenesis</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Pyruvate_carboxylase_deficiency" title="Pyruvate carboxylase deficiency">Pyruvate carboxylase deficiency</a></li> <li><a href="/wiki/Fructose_bisphosphatase_deficiency" title="Fructose bisphosphatase deficiency">Fructose bisphosphatase deficiency</a></li> <li><a href="/wiki/Glycogen_storage_disease_type_I" title="Glycogen storage disease type I">GSD type I</a> (von Gierke's disease, glucose 6-phosphatase deficiency)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Pentose_phosphate_pathway" title="Pentose phosphate pathway">Pentose phosphate pathway</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><a href="/wiki/Transaldolase_deficiency" title="Transaldolase deficiency">Transaldolase deficiency</a></li> <li><a href="/wiki/Transketolase#Role_in_disease" title="Transketolase">SDDHD</a> (Transketolase deficiency)</li> <li><a href="/wiki/6-phosphogluconate_dehydrogenase_deficiency" title="6-phosphogluconate dehydrogenase deficiency">6-phosphogluconate dehydrogenase deficiency</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hyperoxaluria" title="Hyperoxaluria">Hyperoxaluria</a> <ul><li><a href="/wiki/Primary_hyperoxaluria" title="Primary hyperoxaluria">Primary hyperoxaluria</a></li></ul></li> <li><a href="/wiki/Pentosuria" title="Pentosuria">Pentosuria</a></li> <li>Fatal congenital nonlysosomal cardiac glycogenosis (<a href="/wiki/AMP-activated_protein_kinase" title="AMP-activated protein kinase">AMP-activated protein kinase</a> deficiency, <a href="/wiki/PRKAG2" title="PRKAG2">PRKAG2</a>)</li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox authority-control" aria-label="Navbox" style="padding:3px"><table class="nowraplinks hlist navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Help:Authority_control" title="Help:Authority control">Authority control databases</a>: National <a href="https://www.wikidata.org/wiki/Q1421738#identifiers" title="Edit this at Wikidata"><img alt="Edit this at Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></th><td class="navbox-list-with-group navbox-list navbox-odd" 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href="/wiki/Template:Diseases_of_myoneural_junction_and_muscle" title="Template:Diseases of myoneural junction and muscle"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Diseases_of_myoneural_junction_and_muscle" title="Template talk:Diseases of myoneural junction and muscle"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Diseases_of_myoneural_junction_and_muscle" title="Special:EditPage/Template:Diseases of myoneural junction and muscle"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_muscle,_neuromuscular_junction,_and_neuromuscular_disease" style="font-size:114%;margin:0 4em">Diseases of <a href="/wiki/Muscle" title="Muscle">muscle</a>, <a href="/wiki/Neuromuscular_junction" title="Neuromuscular junction">neuromuscular junction</a>, and <a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">neuromuscular disease</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">Neuromuscular-</a> <a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">junction disease</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autoimmune" class="mw-redirect" title="Autoimmune">autoimmune</a> <ul><li><a href="/wiki/Myasthenia_gravis" title="Myasthenia gravis">Myasthenia gravis</a></li> <li><a href="/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome" title="Lambert–Eaton myasthenic syndrome">Lambert–Eaton myasthenic syndrome</a></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a></li></ul></li> <li><a href="/wiki/Congenital_myasthenic_syndrome" title="Congenital myasthenic syndrome">Congenital myasthenic syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myopathy" title="Myopathy">Myopathy</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Muscular_dystrophy" title="Muscular dystrophy">Muscular dystrophy</a> (<a href="/wiki/Dystrophin-associated_protein_complex" title="Dystrophin-associated protein complex">DAPC</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">AD</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 1</a></li> <li><a href="/wiki/Oculopharyngeal_muscular_dystrophy" title="Oculopharyngeal muscular dystrophy">Oculopharyngeal</a></li> <li><a href="/wiki/Facioscapulohumeral_muscular_dystrophy" title="Facioscapulohumeral muscular dystrophy">Facioscapulohumeral</a></li> <li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic</a></li> <li><a href="/wiki/Distal_muscular_dystrophy" class="mw-redirect" title="Distal muscular dystrophy">Distal (most)</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">AR</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Calpainopathy" title="Calpainopathy">Calpainopathy</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 2</a></li> <li><a href="/wiki/Congenital_muscular_dystrophy" title="Congenital muscular dystrophy">Congenital</a> <ul><li><a href="/wiki/Fukuyama_congenital_muscular_dystrophy" title="Fukuyama congenital muscular dystrophy">Fukuyama</a></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich</a></li> <li><a href="/wiki/Walker%E2%80%93Warburg_syndrome" title="Walker–Warburg syndrome">Walker–Warburg</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">XR</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Dystrophin" title="Dystrophin">dystrophin</a> <ul><li><a href="/wiki/Becker%27s_muscular_dystrophy" class="mw-redirect" title="Becker's muscular dystrophy">Becker's</a></li> <li><a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li></ul></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other structural</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Collagen_disease" title="Collagen disease">collagen disease</a> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a></li></ul></li> <li><a href="/wiki/Protein_tyrosine_phosphatase" title="Protein tyrosine phosphatase">PTP disease</a> <ul><li><a href="/wiki/X-linked_myotubular_myopathy" title="X-linked myotubular myopathy">X-linked MTM</a></li></ul></li> <li><a href="/wiki/Signal_transducing_adaptor_protein" title="Signal transducing adaptor protein">adaptor protein disease</a> <ul><li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">BIN1-linked centronuclear myopathy</a></li></ul></li> <li><a href="/wiki/Cytoskeleton" title="Cytoskeleton">cytoskeleton disease</a> <ul><li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy</a></li> <li><a href="/wiki/Zaspopathy" title="Zaspopathy">Zaspopathy</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Channelopathy" title="Channelopathy">Channelopathy</a> <ul><li>(ion channel)</li></ul></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myotonia" title="Myotonia">Myotonia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Myotonia_congenita" title="Myotonia congenita">Myotonia congenita</a> <ul><li><a href="/wiki/Thomsen_disease" class="mw-redirect" title="Thomsen disease">Thomsen disease</a></li> <li><a href="/wiki/Becker_disease" class="mw-redirect" title="Becker disease">Becker disease</a></li></ul></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a> <ul><li><a href="/wiki/Isaacs_syndrome" class="mw-redirect" title="Isaacs syndrome">Isaacs syndrome</a></li></ul></li> <li><a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Periodic_paralysis" title="Periodic paralysis">Periodic paralysis</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic</a> <ul><li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic</a></li></ul></li> <li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Central_core_disease" title="Central core disease">Central core disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ATPase disorder <ul><li>(ion pump)</li></ul></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Brody_myopathy" title="Brody myopathy">Brody disease</a> (<a href="/wiki/ATP2A1" title="ATP2A1">ATP2A1</a>)</li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_myopathy" title="Metabolic myopathy">Metabolic myopathy</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>Muscle <a class="mw-selflink selflink">Glycogen storage disease</a></li> <li><a href="/wiki/Fatty-acid_metabolism_disorder" title="Fatty-acid metabolism disorder">Fatty-acid metabolism disorder</a></li> <li><a href="/wiki/Adenosine_monophosphate_deaminase_deficiency_type_1" title="Adenosine monophosphate deaminase deficiency type 1">AMPD1 deficiency</a></li> <li><a href="/wiki/Mitochondrial_myopathy" title="Mitochondrial myopathy">Mitochondrial myopathy</a> (<a href="/wiki/MELAS_syndrome" title="MELAS syndrome">MELAS</a></li> <li><a href="/wiki/MERRF_syndrome" title="MERRF syndrome">MERRF</a></li> <li><a href="/wiki/Kearns%E2%80%93Sayre_syndrome" title="Kearns–Sayre syndrome">KSS</a></li> <li><a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">PEO</a></li> <li><a href="/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome" title="Mitochondrial neurogastrointestinal encephalopathy syndrome">MNGIE</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrinopathy</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypothyroid" class="mw-redirect" title="Hypothyroid">Hypothyroid</a> myopathy <ul><li><a href="/wiki/Kocher%E2%80%93Debre%E2%80%93Semelaigne_syndrome" title="Kocher–Debre–Semelaigne syndrome">Kocher–Debre–Semelaigne syndrome</a></li> <li><a href="/wiki/Hoffmann_syndrome" title="Hoffmann syndrome">Hoffmann syndrome</a></li></ul></li> <li><a href="/wiki/Hyperthyroid" class="mw-redirect" title="Hyperthyroid">Hyperthyroid</a> myopathy <ul><li><a href="/wiki/Thyrotoxic_myopathy" title="Thyrotoxic myopathy">Thyrotoxic myopathy</a></li></ul></li> <li><a href="/wiki/Hypoparathyroidism" title="Hypoparathyroidism">Hypoparathyroid myopathy</a></li> <li><a href="/wiki/Hyperparathyroidism" title="Hyperparathyroidism">Hyperparathyroid myopathy</a></li> <li><a href="/wiki/Hypercortisolism" class="mw-redirect" title="Hypercortisolism">Hypercortisolism</a> <ul><li>Corticosteroid myopathy</li></ul></li> <li>Testosterone deficiency myopathy <ul><li><a href="/wiki/Late-onset_hypogonadism" title="Late-onset hypogonadism">Late-onset hypogonadism</a></li> <li><a href="/wiki/Hypogonadotropic_hypogonadism" title="Hypogonadotropic hypogonadism">Hypogonadotropic hypogonadism</a></li> <li><a href="/wiki/Androgen_deficiency" title="Androgen deficiency">Androgen deficiency</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">General</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Inflammatory_myopathy" title="Inflammatory myopathy">Inflammatory myopathy</a></li> <li><a href="/wiki/Congenital_myopathy" title="Congenital myopathy">Congenital myopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div><div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Symptoms_and_conditions_relating_to_muscle" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Myopathy" title="Template:Myopathy"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Myopathy" title="Template talk:Myopathy"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Myopathy" title="Special:EditPage/Template:Myopathy"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Symptoms_and_conditions_relating_to_muscle" style="font-size:114%;margin:0 4em">Symptoms and <a href="/wiki/Myopathy" title="Myopathy">conditions</a> relating to <a href="/wiki/Muscle" title="Muscle">muscle</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Pain" title="Pain">Pain</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Myalgia" title="Myalgia">Myalgia</a> <ul><li><a href="/wiki/Fibromyalgia" title="Fibromyalgia">Fibromyalgia</a></li> <li><a href="/wiki/Acute_muscle_soreness" title="Acute muscle soreness">Acute</a></li> <li><a href="/wiki/Delayed_onset_muscle_soreness" title="Delayed onset muscle soreness">Delayed onset</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Inflammation" title="Inflammation">Inflammation</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Myositis" title="Myositis">Myositis</a> <ul><li><a href="/wiki/Pyomyositis" title="Pyomyositis">Pyomyositis</a></li></ul></li> <li><a href="/wiki/Edema" title="Edema">Myoedema</a> (<a href="/wiki/Hypothyroidism" title="Hypothyroidism">Hypothyroid myopathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Destruction</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Muscle_weakness" title="Muscle weakness">Muscle weakness</a></li> <li><a href="/wiki/Rhabdomyolysis" title="Rhabdomyolysis">Rhabdomyolysis</a></li> <li><a href="/wiki/Muscle_atrophy" title="Muscle atrophy">Muscle atrophy</a>/<a href="/wiki/Amyotrophy" title="Amyotrophy">Amyotrophy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Low ATP reservoir</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Muscle_fatigue" title="Muscle fatigue">Muscle fatigue</a></li> <li><a href="/wiki/Exercise_intolerance" title="Exercise intolerance">Exercise intolerance</a></li> <li><a href="/w/index.php?title=Myogenic_hyperuricemia&action=edit&redlink=1" class="new" title="Myogenic hyperuricemia (page does not exist)">Myogenic hyperuricemia</a></li> <li><a href="/wiki/Symptoms#Dynamic_and_static" class="mw-redirect" title="Symptoms">Dynamic symptoms (exercise-induced)</a></li> <li><a href="/wiki/Sinus_tachycardia#Metabolic_myopathy" title="Sinus tachycardia"> Inappropriate rapid heart rate response to exercise (tachycardia)</a></li> <li><a href="/wiki/Cardiovascular_fitness" title="Cardiovascular fitness">Exaggerated cardiorespiratory response to exercise (tachycardia with tachypnea and/or hyperpnea (exercise hyperventilation))</a></li> <li><a href="/wiki/Hitting_the_wall" title="Hitting the wall">Hitting the wall</a></li> <li><a href="/wiki/Second_wind" title="Second wind">Second wind</a></li> <li>(<a href="/wiki/Metabolic_myopathy" title="Metabolic myopathy">Metabolic myopathies</a></li> <li><a href="/wiki/Diabetes" title="Diabetes">Diabetes</a></li> <li><a href="/wiki/Hypothyroidism" title="Hypothyroidism">Hypothyroid myopathy</a></li> <li><a href="/wiki/Hyperthyroidism" title="Hyperthyroidism">Hyperthyroid myopathy</a></li> <li><a href="/wiki/Hypoparathyroidism" title="Hypoparathyroidism">Hypoparathyroidism</a></li> <li><a href="/wiki/Hypokalemia" title="Hypokalemia">Hypokalemia</a></li> <li><a href="/wiki/Hypoxia_(medical)" class="mw-redirect" title="Hypoxia (medical)">Hypoxic muscle</a></li> <li><a href="/wiki/Pseudohypoxia" title="Pseudohypoxia">Pseudohypoxia</a></li> <li><a href="/wiki/Intermittent_claudication" title="Intermittent claudication">Intermittent claudication</a></li> <li><a href="/wiki/Scurvy" title="Scurvy">Scurvy</a></li> <li><a href="/wiki/Fasting" title="Fasting">Fasting</a> / <a href="/wiki/Starvation" title="Starvation">Starvation</a></li> <li><a href="/wiki/Alcoholism" title="Alcoholism">Alcoholism</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Abnormal movement</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Muscle_cramp" class="mw-redirect" title="Muscle cramp">Muscle cramp</a></li> <li><a href="/wiki/Myokymia" title="Myokymia">Myokymia</a></li> <li><a href="/wiki/Spasm" title="Spasm">Muscle spasm</a></li> <li><a href="/wiki/Fasciculations" class="mw-redirect" title="Fasciculations">Fasciculations</a></li> <li><a href="/wiki/Muscle_contracture" title="Muscle contracture">Muscle contracture</a> <ul><li><a href="/wiki/Fibrosis" title="Fibrosis">Fibrosis</a></li> <li><a href="/wiki/Adhesion_(medicine)" title="Adhesion (medicine)">Adhesion</a></li></ul></li> <li><a href="/wiki/Myotonia" title="Myotonia">Myotonia</a> <ul><li><a href="/wiki/Channelopathy" title="Channelopathy">Muscle channelopathies</a></li></ul></li> <li><a href="/wiki/Myotonia" title="Myotonia">Pseudo-myotonia</a> (<a href="/wiki/Brody_myopathy" title="Brody myopathy">Brody myopathy</a>)</li> <li><a href="/wiki/Spasticity" title="Spasticity">Spasticity</a></li> <li><a href="/w/index.php?title=Rippling_muscle_disease&action=edit&redlink=1" class="new" title="Rippling muscle disease (page does not exist)">Rippling muscle disease</a></li> <li><a href="/wiki/Periodic_paralysis" title="Periodic paralysis">Periodic paralysis</a></li> <li><a href="/wiki/Hypotonia" title="Hypotonia">Hypotonia</a> / <a href="/wiki/Hypertonia" title="Hypertonia">Hypertonia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Myositis_ossificans" title="Myositis ossificans">Myositis ossificans</a> <ul><li><a href="/wiki/Fibrodysplasia_ossificans_progressiva" title="Fibrodysplasia ossificans progressiva">Fibrodysplasia ossificans progressiva</a></li></ul></li> <li><a href="/wiki/Compartment_syndrome" title="Compartment syndrome">Compartment syndrome</a> <ul><li><a href="/wiki/Anterior_compartment_syndrome_of_the_lower_leg" class="mw-redirect" title="Anterior compartment syndrome of the lower leg">Anterior</a></li></ul></li> <li><a href="/wiki/Diastasis_(pathology)" title="Diastasis (pathology)">Diastasis of muscle</a> <ul><li><a href="/wiki/Diastasis_recti" title="Diastasis recti">Diastasis recti</a></li></ul></li> <li><a href="/wiki/Pseudoathletic_appearance" title="Pseudoathletic appearance">Pseudoathletic appearance</a> (<a href="/wiki/Hyperplasia" title="Hyperplasia">Muscle hyperplasia</a> / <a href="/wiki/Muscle_hypertrophy" title="Muscle hypertrophy">Muscle hypertrophy</a> / <a href="/wiki/Pseudohypertrophy" title="Pseudohypertrophy">Pseudohypertrophy</a>)</li></ul> </div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Glycogen_storage_disease&oldid=1254908777">https://en.wikipedia.org/w/index.php?title=Glycogen_storage_disease&oldid=1254908777</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Inborn_errors_of_carbohydrate_metabolism" title="Category:Inborn errors of carbohydrate metabolism">Inborn errors of carbohydrate metabolism</a></li><li><a href="/wiki/Category:Hepatology" 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