PMID: identifiant
de la référence Pubmed : |
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 (22889154)  |
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| titre : |
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. |
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| auteur(s) : |
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Marc Engelen ( ) 1, 2, Stephan Kemp2, 3, Marianne de Visser1, Björn van Geel1, 4, Ronald Wanders3, Patrick Aubourg5, 6, Bwee Poll-The1, 2 |
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| laboratoire : |
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| résumé : |
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ABSTRACT: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; >C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder. |
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| domaine : |
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Sciences du Vivant/Génétique
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langue du texte
intégral : |
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Anglais |
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| ISSN : |
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1750-1172 |
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| type de publication : |
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Articles dans des revues avec comité de lecture |
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| DOI : |
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10.1186/1750-1172-7-51 |
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| journal : |
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| Orphanet Journal of Rare Diseases |
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BioMed Central |
| ISSN |
1750-1172 |
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| Audience : |
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internationale |
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| date de publication : |
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13/08/2012 |
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date de publication
électronique : |
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13/08/2012 |
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| volume : |
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7 |
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| numéro : |
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1 |
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| page, identifiant, ... : |
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51 |
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| mots-clés auteur : |
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X-linked adrenoleukodystrophy – X-ALD – Very long-chain fatty acids – VLCFA – ABCD1 – Peroxisome – Myelin – Leukodystrophy – Demyelinating disorder – Addison's disease – Myelopathy |
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| contrat, financement : |
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This work was supported by a grant from the Netherlands Organization for Scientific Research (91786328 to SK). |
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