KEGG   DISEASE: Sphingolipidosis
Entry
H00423                      Disease                                
Name
Sphingolipidosis
  Subgroup
Gangliosidosis [DS:H00426]
Fabry disease [DS:H00125]
Gaucher disease [DS:H00126]
Metachromatic leukodystrophy [DS:H00127]
Defects in the degradation of sphingomyelin [DS:H00424]
Krabbe disease [DS:H00135]
Multiple sulfatase deficiency [DS:H00272]
  Supergrp
Lysosomal storage disease [DS:H01425]
Description
The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Lysosomal storage diseases
   H00423  Sphingolipidosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00423  Sphingolipidosis
Pathway
hsa00600  Sphingolipid metabolism
hsa04142  Lysosome
Network
nt06014 Sphingolipid degradation
Gene
GLA [HSA:2717] [KO:K01189]
GLB1 [HSA:2720] [KO:K12309]
GBA [HSA:2629] [KO:K01201]
ARSA [HSA:410] [KO:K01134]
GALC [HSA:2581] [KO:K01202]
SMPD1 [HSA:6609] [KO:K12350]
ASAH1 [HSA:427] [KO:K12348]
PSAP [HSA:5660] [KO:K12382]
SUMF1 [HSA:285362] [KO:K13444]
Other DBs
ICD-11: 5C56.0
ICD-10: E75.2
OMIM: 250100 249900 245200 272200
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
PMID:17347913 (MLD)
  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:19267410 (MLD variant)
  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
Reference
PMID:10833326 (Krabbe)
  Authors
Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
  Title
Krabbe disease: genetic aspects and progress toward therapy.
  Journal
Mol Genet Metab 70:1-9 (2000)
DOI:10.1006/mgme.2000.2990
Reference
PMID:18157819 (MSD)
  Authors
Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J
  Title
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
  Journal
Hum Mutat 29:205 (2008)
DOI:10.1002/humu.9515
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