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.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">Pyruvate kinase deficiency</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Erythrocyte pyruvate kinase deficiency<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Phosphoenolpyruvic_acid.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Phosphoenolpyruvic_acid.svg/220px-Phosphoenolpyruvic_acid.svg.png" decoding="async" width="220" height="125" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Phosphoenolpyruvic_acid.svg/330px-Phosphoenolpyruvic_acid.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Phosphoenolpyruvic_acid.svg/440px-Phosphoenolpyruvic_acid.svg.png 2x" data-file-width="970" data-file-height="550" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data"><a href="/wiki/Phosphoenolpyruvate" class="mw-redirect" title="Phosphoenolpyruvate">Phosphoenolpyruvate</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/Hematology" title="Hematology">Hematology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q3043149?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on 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></span></span></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">Anemia, tachycardia<sup id="cite_ref-:3_2-0" class="reference"><a href="#cite_note-:3-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data">Mutation in PKLR gene<sup id="cite_ref-hom_3-0" class="reference"><a href="#cite_note-hom-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data">Physical exam, <a href="/wiki/Complete_blood_count" title="Complete blood count">CBC</a><sup id="cite_ref-medl_4-0" class="reference"><a href="#cite_note-medl-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data">Blood transfusion<sup id="cite_ref-medl_4-1" class="reference"><a href="#cite_note-medl-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup></td></tr></tbody></table> <p><b>Pyruvate kinase deficiency</b> is an <a href="/wiki/Heredity" title="Heredity">inherited</a> <a href="/wiki/Metabolic_disorder" title="Metabolic disorder">metabolic disorder</a> of the enzyme <a href="/wiki/Pyruvate_kinase" title="Pyruvate kinase">pyruvate kinase</a> which affects the survival of <a href="/wiki/Red_blood_cell" title="Red blood cell">red blood cells</a>.<sup id="cite_ref-medl_4-2" class="reference"><a href="#cite_note-medl-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Both <a href="/wiki/Autosome" title="Autosome">autosomal</a> <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">dominant</a> and <a href="/wiki/Recessive" class="mw-redirect" title="Recessive">recessive</a> inheritance have been observed with the disorder; classically, and more commonly, the inheritance is <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a>. Pyruvate kinase deficiency is the second most common cause of enzyme-deficient <a href="/wiki/Hemolytic_anemia" title="Hemolytic anemia">hemolytic anemia</a>, following <a href="/wiki/G6PD_deficiency" class="mw-redirect" title="G6PD deficiency">G6PD deficiency</a>.<sup id="cite_ref-:0_6-0" class="reference"><a href="#cite_note-:0-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Gallstones.PNG" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/a/af/Gallstones.PNG/220px-Gallstones.PNG" decoding="async" width="220" height="191" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/a/af/Gallstones.PNG/330px-Gallstones.PNG 1.5x, //upload.wikimedia.org/wikipedia/commons/a/af/Gallstones.PNG 2x" data-file-width="420" data-file-height="364" /></a><figcaption><a href="/wiki/Gallstones" class="mw-redirect" title="Gallstones">Gallstones</a></figcaption></figure> <p>Symptoms can be extremely varied among those suffering from pyruvate kinase deficiency. The majority of those suffering from the disease are detected at birth while some only present symptoms during times of great physiological stress such as pregnancy, or with acute illnesses (<a href="/wiki/Virus" title="Virus">viral</a> disorders).<sup id="cite_ref-:7_7-0" class="reference"><a href="#cite_note-:7-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Symptoms are limited to or most severe during childhood.<sup id="cite_ref-:3_2-1" class="reference"><a href="#cite_note-:3-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Among the symptoms of pyruvate kinase deficiency are:<sup id="cite_ref-:3_2-2" class="reference"><a href="#cite_note-:3-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <ul><li>Mild to severe hemolytic <a href="/wiki/Anemia" title="Anemia">anemia</a></li> <li><a href="/wiki/Cholecystolithiasis" class="mw-redirect" title="Cholecystolithiasis">Cholecystolithiasis</a></li> <li><a href="/wiki/Tachycardia" title="Tachycardia">Tachycardia</a></li> <li><a href="/wiki/Iron_overload" title="Iron overload">Hemochromatosis</a></li> <li>Icteric sclera</li> <li><a href="/wiki/Splenomegaly" title="Splenomegaly">Splenomegaly</a></li> <li>Leg <a href="/wiki/Ulcers" class="mw-redirect" title="Ulcers">ulcers</a></li> <li><a href="/wiki/Jaundice" title="Jaundice">Jaundice</a></li> <li><a href="/wiki/Fatigue" title="Fatigue">Fatigue</a></li> <li><a href="/wiki/Shortness_of_breath" title="Shortness of breath">Shortness of breath</a></li></ul> <p>The level of 2,3-bisphosphoglycerate is elevated: 1,3-bisphosphoglycerate, a precursor of <a href="/wiki/Phosphoenolpyruvate" class="mw-redirect" title="Phosphoenolpyruvate">phosphoenolpyruvate</a> which is the substrate for Pyruvate kinase, is increased and so the <a href="/wiki/Luebering-Rapoport_pathway" class="mw-redirect" title="Luebering-Rapoport pathway">Luebering-Rapoport pathway</a> is overactivated. This led to a rightward shift in the oxygen dissociation curve of hemoglobin (i.e. it decreases the hemoglobin affinity for oxygen): In consequence, patients may tolerate anemia surprisingly well.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Cause">Cause</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=2" title="Edit section: Cause"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Pyruvate kinase deficiency is due to a mutation in the <a href="/wiki/PKLR" class="mw-redirect" title="PKLR">PKLR</a> gene. There are four <a href="/wiki/Pyruvate_kinase" title="Pyruvate kinase">pyruvate kinase</a> <a href="/wiki/Isozyme" title="Isozyme">isoenzymes</a>, two of which are encoded by the PKLR gene (isoenzymes L and R, which are used in the liver and <a href="/wiki/Red_blood_cell" title="Red blood cell">erythrocytes</a>, respectively). Mutations in the PKLR gene therefore cause a deficiency in the pyruvate kinase enzyme.<sup id="cite_ref-hom_3-1" class="reference"><a href="#cite_note-hom-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:4_9-0" class="reference"><a href="#cite_note-:4-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p><p>180 different mutations have been found on the gene coding for the L and R isoenzymes, 124 of which are single-nucleotide <a href="/wiki/Missense_mutation" title="Missense mutation">missense mutations</a>.<sup id="cite_ref-:5_10-0" class="reference"><a href="#cite_note-:5-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> Pyruvate kinase deficiency is most commonly an <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">autosomal recessive trait</a>.<sup id="cite_ref-:6_11-0" class="reference"><a href="#cite_note-:6-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> Although it is mostly <a href="/wiki/Zygosity" title="Zygosity">homozygotes</a> that demonstrate symptoms of the disorder,<sup id="cite_ref-:3_2-3" class="reference"><a href="#cite_note-:3-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Compound_heterozygosity" title="Compound heterozygosity">compound heterozygotes</a> can also show clinical signs.<sup id="cite_ref-:5_10-1" class="reference"><a href="#cite_note-:5-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathophysiology">Pathophysiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=3" title="Edit section: Pathophysiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:ATP-xtal-3D-balls.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/8/85/ATP-xtal-3D-balls.png/220px-ATP-xtal-3D-balls.png" decoding="async" width="220" height="211" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/8/85/ATP-xtal-3D-balls.png/330px-ATP-xtal-3D-balls.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/8/85/ATP-xtal-3D-balls.png/440px-ATP-xtal-3D-balls.png 2x" data-file-width="1100" data-file-height="1053" /></a><figcaption>ATP-3D</figcaption></figure> <p>Pyruvate kinase is the last enzyme involved in the <a href="/wiki/Glycolysis" title="Glycolysis">glycolytic process</a>, transferring the phosphate group from phosphenol pyruvate to a waiting <a href="/wiki/Adenosine_diphosphate" title="Adenosine diphosphate">adenosine diphosphate</a> (ADP) molecule, resulting in both <a href="/wiki/Adenosine_triphosphate" title="Adenosine triphosphate">adenosine triphosphate</a> (ATP) and <a href="/wiki/Pyruvic_acid" title="Pyruvic acid">pyruvate</a>. This is the second ATP producing step of the process and the third regulatory reaction.<sup id="cite_ref-:7_7-1" class="reference"><a href="#cite_note-:7-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-patient_12-0" class="reference"><a href="#cite_note-patient-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Pyruvate kinase deficiency in the red blood cells results in an inadequate amount of or complete lack of the enzyme, blocking the completion of the <a href="/wiki/Glycolysis" title="Glycolysis">glycolytic pathway</a>. Therefore, all products past the block would be deficient in the red blood cell. These products include ATP and pyruvate.<sup id="cite_ref-:3_2-4" class="reference"><a href="#cite_note-:3-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>Mature <a href="/wiki/Red_blood_cell" title="Red blood cell">erythrocytes</a> lack a <a href="/wiki/Cell_nucleus" title="Cell nucleus">nucleus</a> and <a href="/wiki/Mitochondrion" title="Mitochondrion">mitochondria</a>. Without a nucleus, they lack the ability to synthesize new proteins so if anything happens to their pyruvate kinase, they are unable to generate replacement enzymes throughout the rest of their life cycle. Without mitochondria, erythrocytes are heavily dependent on the anaerobic generation of ATP during glycolysis for nearly all of their energy requirements.<sup id="cite_ref-:8_13-0" class="reference"><a href="#cite_note-:8-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>With insufficient ATP in an erythrocyte, all active processes in the cell come to a halt. Sodium potassium <a href="/wiki/ATPase" title="ATPase">ATPase</a> pumps are the first to stop. Since the <a href="/wiki/Cell_membrane" title="Cell membrane">cell membrane</a> is more permeable to <a href="/wiki/Potassium" title="Potassium">potassium</a> than <a href="/wiki/Sodium" title="Sodium">sodium</a>, potassium leaks out. Intracellular fluid becomes <a href="/wiki/Tonicity" title="Tonicity">hypotonic</a>, water moves down its concentration gradient out of the cell. The cell shrinks and cellular death occurs, this is called 'dehydration at cellular level'.<sup id="cite_ref-:3_2-5" class="reference"><a href="#cite_note-:3-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> This is how a deficiency in pyruvate kinase results in hemolytic anaemia, the body is deficient in red blood cells as they are destroyed by lack of ATP at a larger rate than they are being created.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=4" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The diagnosis of pyruvate kinase deficiency can be done by full <a href="/wiki/Complete_blood_count" title="Complete blood count">blood counts</a> (differential blood counts) and <a href="/wiki/Reticulocyte" title="Reticulocyte">reticulocyte</a> counts.<sup id="cite_ref-:1_16-0" class="reference"><a href="#cite_note-:1-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Other methods include direct enzyme assays, which can determine pyruvate kinase levels in erythrocytes separated by density centrifugation, as well as direct DNA sequencing. For the most part when dealing with pyruvate kinase deficiency, these two diagnostic techniques are complementary to each other as they both contain their own flaws. Direct enzyme assays can diagnose the disorder and molecular testing confirms the diagnosis or vice versa.<sup id="cite_ref-:0_6-1" class="reference"><a href="#cite_note-:0-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Furthermore, tests to determine <a href="/wiki/Bile_salts" class="mw-redirect" title="Bile salts">bile salts</a> (bilirubin) can be used to see whether the <a href="/wiki/Gall_bladder" class="mw-redirect" title="Gall bladder">gall bladder</a> has been compromised.<sup id="cite_ref-:1_16-1" class="reference"><a href="#cite_note-:1-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=5" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Most affected individuals with pyruvate kinase deficiency do not require treatment. Those individuals who are more severely affected may die in utero of <a href="/wiki/Anemia" title="Anemia">anemia</a> or may require intensive treatment. With these severe cases of pyruvate kinase deficiency in red blood cells, treatment is the only option, there is no cure. However, treatment is usually effective in reducing the severity of the symptoms.<sup id="cite_ref-patient_12-1" class="reference"><a href="#cite_note-patient-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p><p>The most common treatment is <a href="/wiki/Blood_transfusion" title="Blood transfusion">blood transfusions</a>, especially in infants and young children. This is done if the red blood cell count has fallen to a critical level.<sup id="cite_ref-:6_11-1" class="reference"><a href="#cite_note-:6-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> The <a href="/wiki/Hematopoietic_stem_cell_transplantation" title="Hematopoietic stem cell transplantation">transplantation of bone marrow</a> has also been conducted as a treatment option.<sup id="cite_ref-:4_9-1" class="reference"><a href="#cite_note-:4-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p><p>There is a natural way the body tries to treat this disease. It increases the <a href="/wiki/Red_blood_cell" title="Red blood cell">erythrocyte</a> production (<a href="/wiki/Reticulocytosis" title="Reticulocytosis">reticulocytosis</a>) because reticulocytes are immature red blood cells that still contain mitochondria and so can produce ATP via <a href="/wiki/Oxidative_phosphorylation" title="Oxidative phosphorylation">oxidative phosphorylation</a>.<sup id="cite_ref-:8_13-1" class="reference"><a href="#cite_note-:8-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Therefore, a treatment option in extremely severe cases is to perform a <a href="/wiki/Splenectomy" title="Splenectomy">splenectomy</a>. This does not stop the destruction of erythrocytes but it does help increase the amount of reticulocytes in the body since most of the <a href="/wiki/Hemolysis" title="Hemolysis">hemolysis</a> occurs when the reticulocytes are trapped in the hypoxic environment of the spleen. This reduces severe anemia and the need for blood transfusions.<sup id="cite_ref-:3_2-6" class="reference"><a href="#cite_note-:3-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Mitapivat" title="Mitapivat">Mitapivat</a> was approved for medical use in the United States in February 2022.<sup id="cite_ref-Agios_PR_18-0" class="reference"><a href="#cite_note-Agios_PR-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=6" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Pyruvate kinase deficiency happens worldwide, however northern Europe, and Japan have many cases. The prevalence of pyruvate kinase deficiency is around 51 cases per million in the population (via <a href="/wiki/Gene_frequency" class="mw-redirect" title="Gene frequency">gene frequency</a>).<sup id="cite_ref-patient_12-2" class="reference"><a href="#cite_note-patient-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Other_animals">Other animals</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=7" title="Edit section: Other animals"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In addition to humans, several other animals are known to be susceptible to pyruvate kinase deficiency, including <a href="/wiki/Dog" title="Dog">dogs</a> and <a href="/wiki/Cat" title="Cat">cats</a>.<sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=8" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/List_of_hematologic_conditions" title="List of hematologic conditions">List of hematologic conditions</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=9" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></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 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href="#cite_ref-:3_2-6"><sup><i><b>g</b></i></sup></a></span> <span class="reference-text"><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 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.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 class="citation web cs1"><a rel="nofollow" class="external text" href="http://emedicine.medscape.com/article/2196589-clinical">"Pyruvate Kinase Deficiency Clinical Presentation: History and Physical Examination"</a>. <i>emedicine.medscape.com</i><span class="reference-accessdate">. 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"Chapter 3 Hemolytic anemias due to erythrocyte enzyme deficiencies". <i>Molecular Aspects of Medicine</i>. <b>17</b> (2): <span class="nowrap">143–</span>170. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2F0098-2997%2896%2988345-2">10.1016/0098-2997(96)88345-2</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/8813716">8813716</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Molecular+Aspects+of+Medicine&rft.atitle=Chapter+3+Hemolytic+anemias+due+to+erythrocyte+enzyme+deficiencies&rft.volume=17&rft.issue=2&rft.pages=%3Cspan+class%3D%22nowrap%22%3E143-%3C%2Fspan%3E170&rft.date=1996-04-01&rft_id=info%3Adoi%2F10.1016%2F0098-2997%2896%2988345-2&rft_id=info%3Apmid%2F8813716&rft.aulast=Jacobasch&rft.aufirst=Gisela&rft.au=Rapoport%2C+Samuel+M.&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></span> </li> <li id="cite_note-:1-16"><span class="mw-cite-backlink">^ <a href="#cite_ref-:1_16-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:1_16-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDisorders2003" class="citation book cs1">Disorders, National Organization for Rare (2003-01-01). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=99YPDvFWBB0C"><i>NORD Guide to Rare Disorders</i></a>. Lippincott Williams & Wilkins. p. 496. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/9780781730631" title="Special:BookSources/9780781730631"><bdi>9780781730631</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=NORD+Guide+to+Rare+Disorders&rft.pages=496&rft.pub=Lippincott+Williams+%26+Wilkins&rft.date=2003-01-01&rft.isbn=9780781730631&rft.aulast=Disorders&rft.aufirst=National+Organization+for+Rare&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3D99YPDvFWBB0C&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></span> </li> <li id="cite_note-17"><span class="mw-cite-backlink"><b><a href="#cite_ref-17">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDavey2010" class="citation book cs1">Davey, Patrick (2010-02-01). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=qN6VebjNBfgC"><i>Medicine at a Glance</i></a>. John Wiley & Sons. p. 341. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/9781405186162" title="Special:BookSources/9781405186162"><bdi>9781405186162</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Medicine+at+a+Glance&rft.pages=341&rft.pub=John+Wiley+%26+Sons&rft.date=2010-02-01&rft.isbn=9781405186162&rft.aulast=Davey&rft.aufirst=Patrick&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3DqN6VebjNBfgC&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></span> </li> <li id="cite_note-Agios_PR-18"><span class="mw-cite-backlink"><b><a href="#cite_ref-Agios_PR_18-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation pressrelease cs1"><a rel="nofollow" class="external text" href="https://www.globenewswire.com/news-release/2022/02/17/2387542/31990/en/Agios-Announces-FDA-Approval-of-PYRUKYND-mitapivat-as-First-Disease-Modifying-Therapy-for-Hemolytic-Anemia-in-Adults-with-Pyruvate-Kinase-Deficiency.html">"Agios Announces FDA Approval of Pyrukynd (mitapivat) as First Disease-Modifying Therapy for Hemolytic Anemia in Adults with Pyruvate Kinase Deficiency"</a> (Press release). 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Retrieved <span class="nowrap">19 February</span> 2022</span> – via GlobeNewswire.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Agios+Announces+FDA+Approval+of+Pyrukynd+%28mitapivat%29+as+First+Disease-Modifying+Therapy+for+Hemolytic+Anemia+in+Adults+with+Pyruvate+Kinase+Deficiency&rft.pub=Agios+Pharmaceuticals&rft.date=2022-02-17&rft_id=https%3A%2F%2Fwww.globenewswire.com%2Fnews-release%2F2022%2F02%2F17%2F2387542%2F31990%2Fen%2FAgios-Announces-FDA-Approval-of-PYRUKYND-mitapivat-as-First-Disease-Modifying-Therapy-for-Hemolytic-Anemia-in-Adults-with-Pyruvate-Kinase-Deficiency.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></span> </li> <li id="cite_note-19"><span class="mw-cite-backlink"><b><a href="#cite_ref-19">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBeutlerGelbart2000" class="citation journal cs1">Beutler, Ernest; Gelbart, Terri (2000). <a rel="nofollow" class="external text" href="https://web.archive.org/web/20170821164829/http://www.bloodjournal.org/content/bloodjournal/95/11/3585.full.pdf?sso-checked=true">"Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population"</a> <span class="cs1-format">(PDF)</span>. <i>Blood</i>. <b>95</b> (11): <span class="nowrap">3585–</span>3588. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1182%2Fblood.V95.11.3585">10.1182/blood.V95.11.3585</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/10828047">10828047</a>. Archived from <a rel="nofollow" class="external text" href="http://www.bloodjournal.org/content/bloodjournal/95/11/3585.full.pdf?sso-checked=true">the original</a> <span class="cs1-format">(PDF)</span> on 2017-08-21<span class="reference-accessdate">. Retrieved <span class="nowrap">2016-11-25</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Blood&rft.atitle=Estimating+the+prevalence+of+pyruvate+kinase+deficiency+from+the+gene+frequency+in+the+general+white+population&rft.volume=95&rft.issue=11&rft.pages=%3Cspan+class%3D%22nowrap%22%3E3585-%3C%2Fspan%3E3588&rft.date=2000&rft_id=info%3Adoi%2F10.1182%2Fblood.V95.11.3585&rft_id=info%3Apmid%2F10828047&rft.aulast=Beutler&rft.aufirst=Ernest&rft.au=Gelbart%2C+Terri&rft_id=http%3A%2F%2Fwww.bloodjournal.org%2Fcontent%2Fbloodjournal%2F95%2F11%2F3585.full.pdf%3Fsso-checked%3Dtrue&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></span> </li> <li id="cite_note-20"><span class="mw-cite-backlink"><b><a href="#cite_ref-20">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWhitneyGoodmanBaileyLothrop1994" class="citation journal cs1">Whitney, K. M.; Goodman, S. A.; Bailey, E. M.; Lothrop, C. D. (August 1994). <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/7520391/">"The molecular basis of canine pyruvate kinase deficiency"</a>. <i>Experimental Hematology</i>. <b>22</b> (9): <span class="nowrap">866–</span>874. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0301-472X">0301-472X</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/7520391">7520391</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Experimental+Hematology&rft.atitle=The+molecular+basis+of+canine+pyruvate+kinase+deficiency&rft.volume=22&rft.issue=9&rft.pages=%3Cspan+class%3D%22nowrap%22%3E866-%3C%2Fspan%3E874&rft.date=1994-08&rft_id=info%3Apmid%2F7520391&rft.issn=0301-472X&rft.aulast=Whitney&rft.aufirst=K.+M.&rft.au=Goodman%2C+S.+A.&rft.au=Bailey%2C+E.+M.&rft.au=Lothrop%2C+C.+D.&rft_id=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F7520391%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></span> </li> <li id="cite_note-21"><span class="mw-cite-backlink"><b><a href="#cite_ref-21">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.ufaw.org.uk/cats/somali---pyruvate-kinase-deficiency-">"Somali - Pyruvate Kinase Deficiency"</a>. <i>www.ufaw.org.uk</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2025-02-01</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.ufaw.org.uk&rft.atitle=Somali+-+Pyruvate+Kinase+Deficiency&rft_id=https%3A%2F%2Fwww.ufaw.org.uk%2Fcats%2Fsomali---pyruvate-kinase-deficiency-&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=10" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFHoffmanBenzSilbersteinHeslop2013" class="citation book cs1">Hoffman, Ronald; Benz, Edward J. Jr.; Silberstein, Leslie E.; Heslop, Helen; Weitz, Jeffrey; Anastasi, John (2013-02-12). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=NIjCabJ2FQcC"><i>Hematology: Diagnosis and Treatment</i></a>. Elsevier Health Sciences. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-1455776887" title="Special:BookSources/978-1455776887"><bdi>978-1455776887</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Hematology%3A+Diagnosis+and+Treatment&rft.pub=Elsevier+Health+Sciences&rft.date=2013-02-12&rft.isbn=978-1455776887&rft.aulast=Hoffman&rft.aufirst=Ronald&rft.au=Benz%2C+Edward+J.+Jr.&rft.au=Silberstein%2C+Leslie+E.&rft.au=Heslop%2C+Helen&rft.au=Weitz%2C+Jeffrey&rft.au=Anastasi%2C+John&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3DNIjCabJ2FQcC&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBaroncian1994" class="citation journal cs1">Baroncian, Luciano (1994). <a rel="nofollow" class="external text" href="https://doi.org/10.1182%2Fblood.V84.7.2354.2354">"Prenatal Diagnosis of Pyruvate Kinase Deficiency"</a>. <i>Blood</i>. <b>84</b> (7): <span class="nowrap">2354–</span>2356. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1182%2Fblood.V84.7.2354.2354">10.1182/blood.V84.7.2354.2354</a></span>. <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/7919353">7919353</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Blood&rft.atitle=Prenatal+Diagnosis+of+Pyruvate+Kinase+Deficiency&rft.volume=84&rft.issue=7&rft.pages=%3Cspan+class%3D%22nowrap%22%3E2354-%3C%2Fspan%3E2356&rft.date=1994&rft_id=info%3Adoi%2F10.1182%2Fblood.V84.7.2354.2354&rft_id=info%3Apmid%2F7919353&rft.aulast=Baroncian&rft.aufirst=Luciano&rft_id=https%3A%2F%2Fdoi.org%2F10.1182%252Fblood.V84.7.2354.2354&rfr_id=info%3Asid%2Fen.wikipedia.org%3APyruvate+kinase+deficiency" class="Z3988"></span></li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Pyruvate_kinase_deficiency&action=edit&section=11" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style 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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><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox32" 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/Q3043149" class="extiw" title="d:Q3043149">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><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></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D55.2">D55.2</a></li><li><b><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></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=282.3">282.3</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/266200">266200</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=C564858">C564858</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb11090.htm">11090</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001197.htm">001197</a></li><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/med/1980-overview">med/1980</a></li><li><b><a href="/wiki/Patient_UK" title="Patient UK">Patient UK</a></b>: <a rel="nofollow" class="external text" href="https://patient.info/doctor/Pyruvate-Kinase-Deficiency">Pyruvate kinase deficiency</a></li></ul></div></div></td></tr></tbody></table></div> <style data-mw-deduplicate="TemplateStyles:r1235681985">.mw-parser-output .side-box{margin:4px 0;box-sizing:border-box;border:1px solid #aaa;font-size:88%;line-height:1.25em;background-color:var(--background-color-interactive-subtle,#f8f9fa);display:flow-root}.mw-parser-output .side-box-abovebelow,.mw-parser-output .side-box-text{padding:0.25em 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abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Diseases_of_RBCs" title="Template:Diseases of RBCs"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Diseases_of_RBCs" title="Template talk:Diseases of RBCs"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Diseases_of_RBCs" title="Special:EditPage/Template:Diseases of RBCs"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_red_blood_cells61" style="font-size:114%;margin:0 4em"><a href="/wiki/Hematologic_disease" title="Hematologic disease">Diseases</a> of <a href="/wiki/Red_blood_cell" title="Red blood cell">red blood cells</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">↑</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="Polycythemia16" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Polycythemia" title="Polycythemia">Polycythemia</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/Polycythemia_vera" title="Polycythemia vera">Polycythemia vera</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">↓</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="Anemia15" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Anemia" title="Anemia">Anemia</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/Nutritional_anemia" title="Nutritional anemia">Nutritional</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/Microcytic_anemia" title="Microcytic anemia">Micro-</a>: <a href="/wiki/Iron-deficiency_anemia" title="Iron-deficiency anemia">Iron-deficiency anemia</a> <ul><li><a href="/wiki/Plummer%E2%80%93Vinson_syndrome" title="Plummer–Vinson syndrome">Plummer–Vinson syndrome</a></li></ul></li></ul> <ul><li><a href="/wiki/Macrocytic_anemia" title="Macrocytic anemia">Macro-</a>: <a href="/wiki/Megaloblastic_anemia" title="Megaloblastic anemia">Megaloblastic anemia</a> <ul><li><a href="/wiki/Pernicious_anemia" title="Pernicious anemia">Pernicious anemia</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hemolytic_anemia" title="Hemolytic anemia">Hemolytic</a><br />(mostly <a href="/wiki/Normocytic_anemia" title="Normocytic anemia">normo-</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/Congenital_hemolytic_anemia" title="Congenital hemolytic anemia">Hereditary</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><i><a href="/wiki/Enzymopathy" class="mw-redirect" title="Enzymopathy">enzymopathy</a>:</i> <a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><i><a href="/wiki/Glycolysis" title="Glycolysis">glycolysis</a></i> <ul><li><a class="mw-selflink selflink">pyruvate kinase deficiency</a></li> <li><a href="/wiki/Triosephosphate_isomerase_deficiency" title="Triosephosphate isomerase deficiency">triosephosphate isomerase deficiency</a></li> <li><a href="/wiki/Hexokinase_deficiency" title="Hexokinase deficiency">hexokinase deficiency</a></li></ul></li></ul> <ul><li><i><a href="/wiki/Hemoglobinopathy" title="Hemoglobinopathy">hemoglobinopathy</a>:</i> <a href="/wiki/Thalassemia" title="Thalassemia">Thalassemia</a> <ul><li><a href="/wiki/Alpha-thalassemia" title="Alpha-thalassemia">alpha</a></li> <li><a href="/wiki/Beta_thalassemia" title="Beta thalassemia">beta</a></li> <li><a href="/wiki/Delta-thalassemia" class="mw-redirect" title="Delta-thalassemia">delta</a></li></ul></li> <li><a href="/wiki/Sickle_cell_disease" title="Sickle cell disease">Sickle cell disease</a>/<a href="/wiki/Sickle_cell_trait" title="Sickle cell trait">trait</a></li> <li><a href="/wiki/Hemoglobin_C_disease" class="mw-redirect" title="Hemoglobin C disease">Hemoglobin C disease</a></li> <li><i><a href="/wiki/Red_blood_cell#Membranes_and_surface_proteins" title="Red blood cell">membrane</a>:</i> <a href="/wiki/Hereditary_spherocytosis" title="Hereditary spherocytosis">Hereditary spherocytosis</a> <ul><li><a href="/wiki/Minkowski%E2%80%93Chauffard_syndrome" class="mw-redirect" title="Minkowski–Chauffard syndrome">Minkowski–Chauffard syndrome</a></li></ul></li> <li><a href="/wiki/Hereditary_elliptocytosis" title="Hereditary elliptocytosis">Hereditary elliptocytosis</a> <ul><li><a href="/wiki/Southeast_Asian_ovalocytosis" title="Southeast Asian ovalocytosis">Southeast Asian ovalocytosis</a></li></ul></li> <li><a href="/wiki/Hereditary_stomatocytosis" title="Hereditary stomatocytosis">Hereditary stomatocytosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Acquired_hemolytic_anemia" title="Acquired hemolytic anemia">Acquired</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 id="AIHA36" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autoimmune_hemolytic_anemia" title="Autoimmune hemolytic anemia">AIHA</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/Warm_antibody_autoimmune_hemolytic_anemia" title="Warm antibody autoimmune hemolytic anemia">Warm antibody autoimmune hemolytic anemia</a></li> <li><a href="/wiki/Cold_agglutinin_disease" title="Cold agglutinin disease">Cold agglutinin disease</a></li> <li><a href="/wiki/Donath%E2%80%93Landsteiner_hemolytic_anemia" class="mw-redirect" title="Donath–Landsteiner hemolytic anemia">Donath–Landsteiner hemolytic anemia</a> <ul><li><a href="/wiki/Paroxysmal_cold_hemoglobinuria" title="Paroxysmal cold hemoglobinuria">Paroxysmal cold hemoglobinuria</a></li></ul></li> <li><a href="/wiki/Mixed_autoimmune_hemolytic_anemia" title="Mixed autoimmune hemolytic anemia">Mixed autoimmune hemolytic anemia</a></li></ul> </div></td></tr></tbody></table><div> <ul><li><i><a href="/wiki/Red_blood_cell#Membranes_and_surface_proteins" title="Red blood cell">membrane</a></i> <ul><li><a href="/wiki/Paroxysmal_nocturnal_hemoglobinuria" title="Paroxysmal nocturnal hemoglobinuria">paroxysmal nocturnal hemoglobinuria</a></li></ul></li></ul> <ul><li><a href="/wiki/Microangiopathic_hemolytic_anemia" title="Microangiopathic hemolytic anemia">Microangiopathic hemolytic anemia</a></li> <li><a href="/wiki/Thrombotic_microangiopathy" title="Thrombotic microangiopathy">Thrombotic microangiopathy</a> <ul><li><a href="/wiki/Hemolytic%E2%80%93uremic_syndrome" title="Hemolytic–uremic syndrome">Hemolytic–uremic syndrome</a></li></ul></li></ul> <ul><li><a href="/wiki/Drug-induced_autoimmune_hemolytic_anemia" title="Drug-induced autoimmune hemolytic anemia">Drug-induced autoimmune</a></li> <li><a href="/wiki/Drug-induced_nonautoimmune_hemolytic_anemia" title="Drug-induced nonautoimmune hemolytic anemia">Drug-induced nonautoimmune</a></li></ul> <ul><li><a href="/wiki/Hemolytic_disease_of_the_newborn" title="Hemolytic disease of the newborn">Hemolytic disease of the newborn</a></li></ul></div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Aplastic_anemia" title="Aplastic anemia">Aplastic</a><br />(mostly <a href="/wiki/Normocytic_anemia" title="Normocytic anemia">normo-</a>)</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/Congenital_hypoplastic_anemia" title="Congenital hypoplastic anemia">Hereditary</a>: <a href="/wiki/Fanconi_anemia" title="Fanconi anemia">Fanconi anemia</a></li> <li><a href="/wiki/Diamond%E2%80%93Blackfan_anemia" title="Diamond–Blackfan anemia">Diamond–Blackfan anemia</a></li> <ul><li>Acquired: <a href="/wiki/Pure_red_cell_aplasia" title="Pure red cell aplasia">Pure red cell aplasia</a></li> <li><a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">Sideroblastic anemia</a></li> <li><a href="/wiki/Myelophthisic_anemia" title="Myelophthisic anemia">Myelophthisic</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Red_blood_cell_indices" title="Red blood cell indices">Blood tests</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><i><a href="/wiki/Mean_corpuscular_volume" title="Mean corpuscular volume">Mean corpuscular volume</a></i> <ul><li><a href="/wiki/Normocytic_anemia" title="Normocytic anemia">normocytic</a></li> <li><a href="/wiki/Microcytic_anemia" title="Microcytic anemia">microcytic</a></li> <li><a href="/wiki/Macrocytic_anemia" title="Macrocytic anemia">macrocytic</a></li></ul></li> <li><i><a href="/wiki/Mean_corpuscular_hemoglobin_concentration" title="Mean corpuscular hemoglobin concentration">Mean corpuscular hemoglobin concentration</a></i> <ul><li><a href="/wiki/Normochromic_anemia" title="Normochromic anemia">normochromic</a></li> <li><a href="/wiki/Hypochromic_anemia" title="Hypochromic anemia">hypochromic</a></li></ul></li></ul> </div></td></tr></tbody></table><div></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" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Methemoglobinemia" title="Methemoglobinemia">Methemoglobinemia</a></li> <li><a href="/wiki/Sulfhemoglobinemia" title="Sulfhemoglobinemia">Sulfhemoglobinemia</a></li> <li><a href="/wiki/Reticulocytopenia" title="Reticulocytopenia">Reticulocytopenia</a></li> <li><a href="/wiki/Hereditary_persistence_of_fetal_hemoglobin" title="Hereditary persistence of fetal hemoglobin">Hereditary persistence of fetal hemoglobin</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="Inborn_error_of_carbohydrate_metabolism:_monosaccharide_metabolism_disorders_Including_glycogen_storage_diseases_(GSD)380" 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:Inborn_errors_of_carbohydrate_metabolism" title="Template:Inborn errors of carbohydrate metabolism"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Inborn_errors_of_carbohydrate_metabolism" title="Template talk:Inborn errors of carbohydrate metabolism"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Inborn_errors_of_carbohydrate_metabolism" title="Special:EditPage/Template:Inborn errors of carbohydrate metabolism"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Inborn_error_of_carbohydrate_metabolism:_monosaccharide_metabolism_disorders_Including_glycogen_storage_diseases_(GSD)380" style="font-size:114%;margin:0 4em"><a href="/wiki/Inborn_error_of_metabolism" class="mw-redirect" title="Inborn error of metabolism">Inborn error</a> of <a href="/wiki/Inborn_errors_of_carbohydrate_metabolism" title="Inborn errors of carbohydrate metabolism">carbohydrate metabolism</a>: <a href="/wiki/Monosaccharide" title="Monosaccharide">monosaccharide</a> metabolism disorders <br /> Including <a href="/wiki/Glycogen_storage_disease" title="Glycogen storage disease">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<br />(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_catabolism29" 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%"><span class="nobold"><a href="/wiki/Fructose" title="Fructose">Fructose</a>:</span></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%"><span class="nobold"><a href="/wiki/Galactose" title="Galactose">Galactose</a> / <a href="/wiki/Galactosemia" title="Galactosemia">galactosemia</a>:</span></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%"><span class="nobold">Extralysosomal:</span></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%"><span class="nobold"><a href="/wiki/Lysosome" title="Lysosome">Lysosomal</a> (<a href="/wiki/Lysosomal_storage_disease" title="Lysosomal storage disease">LSD</a>):</span></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 class="mw-selflink selflink">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><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?useformat=desktop&type=1x1&usesul3=0" 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=Pyruvate_kinase_deficiency&oldid=1273384334">https://en.wikipedia.org/w/index.php?title=Pyruvate_kinase_deficiency&oldid=1273384334</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 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