| H00127 | |
| H number | H00127 |
| Name | Metachromatic leukodystrophy |
| Description | 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. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06014(H00127) Sphingolipid degradation |
| Gene | (MLD) ARSA [HSA:410] [KO:K01134] (MLDSAPB) PSAP [HSA:5660] [KO:K12382] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.02 ICD-10: E75.2 MeSH: D007966 OMIM: 250100 249900 |
| Reference | PMID:18708002 AUTHORS Heese BA TITLE Current strategies in the management of lysosomal storage diseases. JOURNAL Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:18465098 AUTHORS Eckhardt M TITLE The role and metabolism of sulfatide in the nervous system. JOURNAL Mol Neurobiol 37:93-103 (2008) DOI:10.1007/s12035-008-8022-3 PMID:16854371 AUTHORS Kolter T, Sandhoff K TITLE Sphingolipid metabolism diseases. JOURNAL Biochim Biophys Acta 1758:2057-79 (2006) DOI:10.1016/j.bbamem.2006.05.027 PMID:17347913 AUTHORS Sevin C, Aubourg P, Cartier N TITLE Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. JOURNAL J Inherit Metab Dis 30:175-83 (2007) DOI:10.1007/s10545-007-0540-z PMID:1670590 (MLD) AUTHORS Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V TITLE Molecular basis of different forms of metachromatic leukodystrophy. JOURNAL N Engl J Med 324:18-22 (1991) DOI:10.1056/NEJM199101033240104 PMID:19267410 (MLDSAPB) AUTHORS 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 TITLE 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. JOURNAL Am J Med Genet A 149A:613-21 (2009) DOI:10.1002/ajmg.a.32712 |