| H00127 | |
| H番号 | H00127 |
| 名称 | 異染性白質ジストロフィー |
| 概要 | Metachromatic leukodystrophy (MLD) is an autosomal recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation of sulfatide in the central and peripheral nervous systems and extensive white matter damage and loss of both cognitive and motor functions. Mutated PSAP gene resulting in sphingolipid activator protein B deficiency is known to cause MLD variant in which ARSA is normal. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | nt06014(H00127) Sphingolipid degradation |
| 病因遺伝子 | (MLD) ARSA [HSA:410] [KO:K01134] (MLDSAPB) PSAP [HSA:5660] [KO:K12382] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.02 ICD-10: E75.2 MeSH: D007966 OMIM: 250100 249900 |
| 文献 | PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:18465098 著者 Eckhardt M タイトル The role and metabolism of sulfatide in the nervous system. 雑誌 Mol Neurobiol 37:93-103 (2008) DOI:10.1007/s12035-008-8022-3 PMID:16854371 著者 Kolter T, Sandhoff K タイトル Sphingolipid metabolism diseases. 雑誌 Biochim Biophys Acta 1758:2057-79 (2006) DOI:10.1016/j.bbamem.2006.05.027 PMID:17347913 著者 Sevin C, Aubourg P, Cartier N タイトル Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. 雑誌 J Inherit Metab Dis 30:175-83 (2007) DOI:10.1007/s10545-007-0540-z PMID:1670590 (MLD) 著者 Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V タイトル Molecular basis of different forms of metachromatic leukodystrophy. 雑誌 N Engl J Med 324:18-22 (1991) DOI:10.1056/NEJM199101033240104 PMID:19267410 (MLDSAPB) 著者 Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K タイトル Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. 雑誌 Am J Med Genet A 149A:613-21 (2009) DOI:10.1002/ajmg.a.32712 |