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Orphanet: X-linked adrenoleukodystrophy
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<div class="result-detail"> <div class="d-flex justify-content-between mb-4 mx-4"> <h2>X-linked adrenoleukodystrophy</h2> <div class="btn text-white bg-orpa-blue" role="button" id="suggest-modal-btn" data-orphacode="43"> <span id="spinner" class="spinner-border-sm" role="status" aria-hidden="true"></span> <i class="fas fa-pen me-1"></i>Suggest an update </div> </div> <div class="alert d-none mx-4"> <span class="success d-none"> Your message has been sent </span> <span class="error d-none"> Your message has not been sent. Please contact an administrator. </span> </div> <div class="modal fade" id="suggest-modal" tabindex="-1" aria-labelledby="#suggest-modal" aria-hidden="true"> <div class="modal-dialog modal-xl"> <div class="modal-content rounded-0"> <div class="modal-header rounded-0 py-0 justify-content-between text-white px-2 bg-orpa-blue"> Comment Form <div type="button" class="p-1" data-bs-dismiss="modal" aria-label="Close">X</div> </div> <div class="modal-body" data-orphacode="43"> </div> </div> </div> </div> <div class="mx-4 mb-4 p-4 service-color-box"> <strong class="d-block mb-3 service-color">Disease definition</strong> <p> A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy. </p> </div> <div class="mx-4 mb-4 p-4 bg-gray"> <p class="fs-5 d-block mb-2 fw-bold">ORPHA:43</p> <p> <a href=" /en/disease/classification/list/name/X-linked-adrenoleukodystrophy?orphaCode=43">Classification level: Disorder</a> </p> <div class="row"> <div class="col-6"> <strong>Synonym(s): </strong> <ul class="list-unstyled"> <li class="m-2">ALD</li> <li class="m-2">X-ALD</li> <li class="m-2">X-linked ALD</li> </ul> </div> <div class="col-3"> <p class="mt-3"> <strong>Prevalence: </strong> <span>-</span> </p> <p><strong>Inheritance: </strong><span>X-linked dominant</span></p> <p><strong>Age of onset: </strong><span>Adolescent, Adult, Childhood, Elderly</span></p> </div> <div class="col-3"> <p> <strong>ICD-10: </strong> E71.3 </p> <p><strong>ICD-11: </strong> <a target="_blank" href="https://icd.who.int/browse11/l-m/en#/http://id.who.int/icd/entity/1092479335">5C57.1</a> </p> <p><strong>OMIM: </strong> <a target="_blank" href="//omim.org/entry/300100">300100</a> <a target="_blank" href="//omim.org/entry/302700">302700</a> </p> <p><strong>UMLS: </strong> C0162309 </p> <p><strong>MeSH: </strong> D000326 </p> <p><strong>GARD: </strong> <a target="_blank" href="//rarediseases.info.nih.gov/diseases/5758/index">5758</a> </p> <p><strong>MedDRA: </strong> <span> 10051260 </span> </p> </div> </div> </div> <div class="h2 ms-4 mb-4">Summary</div> <div class="mx-4 summary"> <div class="fs-5 orpha-blue">Epidemiology</div> <p class="mx-4">X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder with an estimated birth prevalence of 1/17,000 (male and female). It has been reported throughout the world.</p> <div class="fs-5 orpha-blue">Clinical description</div> <p class="mx-4">X-ALD affects males and females, although symptoms and disease progression differ. The age of onset is highly variable and the rate of progression is unpredictable. Male patients usually present in childhood with signs and symptoms of adrenal failure (80% of male patients develop adrenal failure before the age of 18) or with a rapidly progressive leukodystrophy (40% of male patients before the age of 18, with a lifetime prevalence of 60%). Leukodystrophy is initially clinically silent, but eventually neuropsychiatric symptoms develop, followed by focal deficits like hemiparesis and auditory agnosia, and occasionally epileptic seizures. In early adulthood male patients develop a progressive myelopathy (and peripheral neuropathy) with a gait disorder and incontinence. Progression is slow (over years). Penetrance of this myelopathy is complete, although age of onset and progression are highly variable (some patients require a walking aid whilst others remain ambulatory). Female patients virtually never develop adrenal failure or leukodystrophy. About 90% develop a myelopathy and peripheral neuropathy, but at a later age (after 40 years of age) and with slower progression (over decades) than in males.</p> <div class="fs-5 orpha-blue">Etiology</div> <p class="mx-4">X-ALD is caused by variants of <i>ABCD1</i> (Xq28), with about 900 different mutations reported. There is no geno-phenotype correlation. The encoded protein peroxisomal transmembrane protein is involved in the transport of very long-chain fatty acid CoA-esters (VLCFA) from the cytosol into the peroxisome. Although the exact pathophysiology is poorly understood, perturbed VLCFA homeostasis in glial cells may contribute to the destabilization of the myelin sheath and impairment of axonal function.</p> <div class="fs-5 orpha-blue">Diagnostic methods</div> <p class="mx-4">If there is clinical suspicion, the diagnosis is established by determining plasma VLCFA (C26:0 and C26:0/C22:0 ratio) which is increased in all male patients; up to 15% of female patients have normal VLCFA. Recently, C26:0-lysophosphatidylcholine in bloodspots or plasma has been validated as diagnostic marker, and is elevated in all male and virtually all female patients. The diagnosis can be confirmed by <i>ABCD1</i> mutation analysis. If necessary, functional assays in cultured skin fibroblasts are available. In case of leukodystrophy, the MRI pattern is virtually pathognomonic. Adrenal failure can be established with an ACTH stimulation test. Newborn screening for X-ALD has been recently implemented in certain regions.</p> <div class="fs-5 orpha-blue">Differential diagnosis</div> <p class="mx-4">Testing for X-ALD is recommended in all males presenting with adrenal failure (especially in cases of isolated glucocorticoid deficiency). In adult men or women presenting with a chronic myelopathy, the differential diagnosis is large and includes both acquired and genetic disorders. There is no relevant differential diagnosis for presentation with leukodystrophy.</p> <div class="fs-5 orpha-blue">Antenatal diagnosis</div> <p class="mx-4">In case of a positive family history and a fetus at risk, genetic prenatal diagnosis is possible.</p> <div class="fs-5 orpha-blue">Genetic counseling</div> <p class="mx-4">The disorder is X-linked. Male patients transmit the disorder to all of their daughters, but never to a son. Female patients transmit the disorder to 50% of their sons and daughters. In case a patient is diagnosed, family screening and counseling is recommended.</p> <div class="fs-5 orpha-blue">Management and treatment</div> <p class="mx-4">Adrenal insufficiency in X-ALD is treated by hydrocortisone (and if needed fludrocortisone) by an endocrinologist. For the progressive myelopathy there is currently no disease modifying treatment available. The leukodystrophy is treatable with allogeneic hematopoietic cell transplant (HCT), although the outcome is only acceptable when treated in the early stages (Loes score < 9). Autologous HCT after ex vivo lentiviral gene therapy is pending approval in the U.S.A and Europe.</p> <div class="fs-5 orpha-blue">Prognosis</div> <p class="mx-4">Pre-symptomatic diagnosis permits monitoring for the occurrence of adrenal failure and the onset of cerebral ALD. If appropriate treatment is initiated, severe morbidity and mortality can be prevented. There is currently no treatment to prevent the occurrence or progression of the myelopathy. However, with appropriate supportive care life expectancy is near normal.</p> <span class="expert-list fst-italic fw-lighter"> Last update: <span class="fw-bold">July 2021</span> </span> <span class="expert-list fst-italic fw-lighter"> - Expert reviewer(s): <span class="fw-bold">Dr M. [Marc] ENGELEN | <a class="fw-normal" href="/en/expert-centres/network/482762">ERN-RND</a>*</span> </span> <p class="mt-3"> * <a target="" href="/en/expert_centres/european-reference-network">European Reference Network</a> </p> </div> <div class="mx-4 mb-3 mt-4 fw-bold"> <i class="fas fa-book orpha-blue fs-4"></i> A summary on this disease is available in <span> <a href="/fr/disease/detail/43">Fran莽ais</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="/es/disease/detail/43">Espa帽ol</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="/de/disease/detail/43">Deutsch</a> (2013) </span> <span> <a href="/it/disease/detail/43">Italiano</a> (2013) </span> <span> <a href="/pt/disease/detail/43">Portugu锚s</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="/nl/disease/detail/43">Nederlands</a> (2021) <img src="/build/images/ERN.png" alt="Logo ERN"> </span> <span> <a href="https://www.orpha.net/data/patho/FI/Xkromosominenadrenoleukodystrofia-FifiAbs761--p-ivitys-2014.pdf">Suomi</a> (2013.pdf) </span> <span> <a href="http://www.orpha.net/data/patho/Pro/pl/AdrenoleukodystrofiaaSprzezonaZChromosomemX_PL_pl_PRO_ORPHA43.pdf">Polski</a> (2013.pdf) </span> </div> <div class="m-4 bg-gray p-4"> <div class="h4" id="detailed-info"><i class="fas fa-file"></i> Detailed information</div> <div class="row mt-2 small"> <div class="col-md-6 col-12"> <h5 class="fw-bold mt-4">General public</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Article for general public </strong> <div class="mt-1"> <a target="_blank" href="http://www.orpha.net/data/patho/Pub/Ext/de/Adrenoleukodystrophie_DE_de_PUB_ORPHA43.pdf">Deutsch (2014.pdf)</a> <span class="fst-italic small"> - 脛ZQ</span> <br /> </div> <div class="mt-1"> <a target="_blank" href="https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/om-kunskapsdatabasen/sok-bland-sallsynta-halsotillstand/adrenoleukodystrofi-och-adrenomyeloneuropati/">Svenska (2018)</a> <span class="fst-italic small"> - Socialstyrelsen</span> <br /> </div> </div> <h5 class="fw-bold mt-4">Guidelines</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Clinical practice guidelines </strong> <div class="mt-1"> <a target="_blank" href="http://www.has-sante.fr/jcms/p_3292277/fr/adrenoleucodystrophie">Fran莽ais (2021)</a> <span class="fst-italic small"> - PNDS</span> <img src="/build/images/FSMR.png" alt="Logo FSMR"> <br /> </div> <div class="mt-1"> <a target="_blank" href="http://www.has-sante.fr/jcms/p_3292277/fr/adrenoleucodystrophie">Fran莽ais (2021)</a> <span class="fst-italic small"> - PNDS</span> <img src="/build/images/FSMR.png" alt="Logo FSMR"> <br /> </div> <div class="mt-1"> <a target="_blank" href="http://www.awmf.org/leitlinien/detail/ll/030-118.html">Deutsch (2022)</a> <span class="fst-italic small"> - AWMF</span> <br /> </div> <div class="mt-1"> <a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/24330030/">English (2014)</a> <span class="fst-italic small"> - J Intern Med</span> <img src="/build/images/ERN.png" alt="Logo ERN"> <br /> </div> </div> </div> <div class="col-md-6 col-12"> <h5 class="fw-bold mt-4">Disease review articles</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Review article </strong> <div class="mt-1"> <a target="_blank" href="http://www.ojrd.com/content/7/1/51/abstract">English (2012)</a> <span class="fst-italic small"> - Orphanet J Rare Dis</span> <br /> </div> </div> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Clinical genetics review </strong> <div class="mt-1"> <a target="_blank" href="http://www.ncbi.nlm.nih.gov/books/n/gene/x-ald/">English (2023)</a> <span class="fst-italic small"> - GeneReviews</span> <br /> </div> </div> <h5 class="fw-bold mt-4">Genetic testing</h5> <div class="mt-3"> <strong class="mb-2"> <i class="fas fa-angle-right fs-6 orpha-blue"></i> Guidance for genetic testing </strong> <div class="mt-1"> <a target="_blank" href="https://anpgm.fr/media/documents/ANPGM_125-Hypogonadismes_hypogonadotropes.pdf">Fran莽ais (2016.pdf)</a> <span class="fst-italic small"> - ANPGM</span> <br /> </div> <div class="mt-1"> <a target="_blank" href="https://www.nature.com/articles/ejhg2011193">English (2011)</a> <span class="fst-italic small"> - Eur J Hum Genet</span> <br /> </div> </div> </div> </div> <p class="small mt-4"> <img src="/build/images/ERN.png" alt="Logo ERN">: produced/endorsed by ERN(s) <img src="/build/images/FSMR.png" alt="Logo FSMR">: produced/endorsed by FSMR(s) </p> </div> <div class="m-4 service-color-box p-4"> <div class="h4 mb-4"><i class="fas fa-file"></i> Additional information</div> <div class="row"> <div class="col-4"> <p class="fw-bold">Further information on this disease</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/disease/classification/list/name/X-linked-adrenoleukodystrophy?orphaCode=43"> Classification(s) (6)</a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/disease/gene/list/43?mode=name"> Gene(s) (1)</a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/disease/sign/43"> Clinical Signs and Symptoms</a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=adrenoleukodystrophy%5Bmajr%5D+AND+X+linked%5Btw%5D"> Publications in PubMed</a> </li> </ul> </div> <div class="col-4"> <p class="fw-bold">Patient-centred resources for this disease</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/expert-centres/centres/43?name=X-linked%20adrenoleukodystrophy&consulting=medical&age=all&official=0"> Expert centre(s) (558) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/expert-centres/networks?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Networks of expert centre (22) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/diagnostic-tests/diagnostics?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Diagnostic tests (119) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/patient-organisations?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Patient organisation(s) (148) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/patient-organisations/federations-alliances?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Federation/alliance(s) (46) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/drug?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy&mode=all"> Orphan designation(s) and orphan drug(s) (31) </a> </li> </ul> </div> <div class="col-4"> <p class="fw-bold">Research activities on this disease</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/research-trials/research-projects?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Research project(s) (87) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/research-trials/clinical-trials?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Clinical trial(s) (6) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/research-trials/biobanks?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Biobank(s) (11) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/research-trials/registries?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Registry(ies) (28) </a> </li> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a href="/en/institutions/expert-networks?orphaCode=43&diseaseName=X-linked%20adrenoleukodystrophy"> Network of experts (10) </a> </li> </ul> <p class="fw-bold">Newborn screening</p> <ul class="list-unstyled"> <li class="my-1"> <i class="fas fa-angle-right orpha-blue"></i> <a target="_blank" href="https://nbs.orphanet.app/?lang=en">Newborn screening library</a> </li> </ul> </div> </div> </div> <div class="mx-4"> <small>The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.</small> </div> </div> </div> </div> </div> </main> </div> </article> </article> </main> <script src="/build/runtime.f3575a88.js" defer></script><script src="/build/755.5a8586e9.js" defer></script><script src="/build/673.f47275b8.js" defer></script><script src="/build/467.7cd7293e.js" defer></script><script src="/build/app.f38c68b0.js" defer></script> <script type="application/ld+json"> { "@context": "http://schema.org/", "@type": "MedicalCondition", "@id": "https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43", "identifier": "43", "name": { "@type": "PronounceableText", "inLanguage": "EN", "textValue": "X-linked adrenoleukodystrophy" }, "alternateName": [ "ALD", "X-ALD", "X-linked ALD" ], "epidemiology": "", "code": [ { "@type": "MedicalCode", "codeValue": "ORPHA:43", "codingSystem": "ORPHAcode" }, { "@type": "MedicalCode", "codeValue": "https://pubmed.ncbi.nlm.nih.gov/?term=adrenoleukodystrophy%5Bmajr%5D+AND+X+linked%5Btw%5D", "codingSystem": "Medline" }, { "@type": "MedicalCode", "codeValue": "10051260", "codingSystem": "MedDRA" }, { "@type": "MedicalCode", "codeValue": "E71.3", "codingSystem": "ICD-10" }, { "@type": "MedicalCode", "codeValue": "300100", "codingSystem": "OMIM" }, { "@type": "MedicalCode", "codeValue": "302700", "codingSystem": "OMIM" }, { "@type": "MedicalCode", "codeValue": "C0162309", "codingSystem": "UMLS" }, { "@type": "MedicalCode", "codeValue": "65389002", "codingSystem": "SNOMED CT" }, { "@type": "MedicalCode", "codeValue": "5C57.1", "codingSystem": "ICD-11" }, { "@type": "MedicalCode", "codeValue": "5758", "codingSystem": "GARD" }, { "@type": "MedicalCode", "codeValue": "D000326", "codingSystem": "MeSH" } ], "description": "A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), 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