KEGG   DISEASE: Metachromatic leukodystrophy
Entry
H00127                      Disease                                
Name
Metachromatic leukodystrophy
  Supergrp
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
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
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00127  Metachromatic leukodystrophy
  Lysosomal storage diseases
   H00127  Metachromatic leukodystrophy
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00127  Metachromatic leukodystrophy
Related
pathway
hsa04142  Lysosome
hsa00600  Sphingolipid metabolism
Network
nt06014  Sphingolipid degradation
Gene
(MLD) ARSA [HSA:410] [KO:K01134]
(MLDSAPB) PSAP [HSA:5660] [KO:K12382]
Other DBs
ICD-11: 5C56.02
ICD-10: E75.2
MeSH: D007966
OMIM: 250100 249900
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
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
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