| H00176 | |
| H番号 | H00176 |
| 名称 | 副腎白質ジストロフィー |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ペルオキシソーム病 |
| ネットワーク | - |
| 病因遺伝子 | ABCD1 [HSA:215] [KO:K05675] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Childhood CER: Onset at 3-10 years of age. AMN: Onset 11-21 years of age. Addison-only: Onset common before 7.5 years. |
| リンク | ICD-11: 8A44.1 5C57.1 ICD-10: E71.3 MeSH: D000326 OMIM: 300100 |
| 文献 | PMID:17342190 著者 Moser HW, Mahmood A, Raymond GV タイトル X-linked adrenoleukodystrophy. 雑誌 Nat Clin Pract Neurol 3:140-51 (2007) DOI:10.1038/ncpneuro0421 PMID:15167059 著者 Moser H, Dubey P, Fatemi A タイトル Progress in X-linked adrenoleukodystrophy. 雑誌 Curr Opin Neurol 17:263-9 (2004) DOI:10.1097/00019052-200406000-00005 PMID:17092750 著者 Kemp S, Wanders RJ タイトル X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. 雑誌 Mol Genet Metab 90:268-76 (2007) DOI:10.1016/j.ymgme.2006.10.001 |