H00176 | |
H number | H00176 |
Name | Adrenoleukodystrophy |
Description | Adrenoleukodystrophy (ALD) is an X-linked disorder caused by mutation in the ABCD1 gene that encodes ABCD1/ALDP, a peroxisomal ABC transporter. ALD is biochemically characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in tissues such as adrenal cortex and white matter of central nervous system. The phenotypes can be subdivided into four main categories: Childhood cerebral adrenoleukodystrophy (CCALD), adrenomyeloneuropathy (AMN), Addison-only ALD, and asymptomatic ALD. This disorder is characterized by progressive behavioral, cognitive and neurologic deficit. |
Category | Inherited metabolic disorder, Peroxisomal disease |
Network | - |
Gene | ABCD1 [HSA:215] [KO:K05675] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Elivaldogene autotemcel [DR:D12150] |
Comment | Childhood CER: Onset at 3-10 years of age. AMN: Onset 11-21 years of age. Addison-only: Onset common before 7.5 years. |
Other DBs | ICD-11: 8A44.1 5C57.1 ICD-10: E71.3 MeSH: D000326 OMIM: 300100 |
Reference | PMID:17342190 AUTHORS Moser HW, Mahmood A, Raymond GV TITLE X-linked adrenoleukodystrophy. JOURNAL Nat Clin Pract Neurol 3:140-51 (2007) DOI:10.1038/ncpneuro0421 PMID:15167059 AUTHORS Moser H, Dubey P, Fatemi A TITLE Progress in X-linked adrenoleukodystrophy. JOURNAL Curr Opin Neurol 17:263-9 (2004) DOI:10.1097/00019052-200406000-00005 PMID:17092750 AUTHORS Kemp S, Wanders RJ TITLE X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. JOURNAL Mol Genet Metab 90:268-76 (2007) DOI:10.1016/j.ymgme.2006.10.001 |