KEGG   DISEASE: Krabbe disease
Entry
H00135                      Disease                                
Name
Krabbe disease;
Globoid cell leukodystrophy
  Supergrp
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Description
Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase.
Category
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00135  Krabbe disease
  Lysosomal storage diseases
   H00135  Krabbe disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A44  Leukodystrophies
    H00135  Krabbe disease
Related
pathway
hsa04142  Lysosome
hsa00600  Sphingolipid metabolism
Network
nt06014  Sphingolipid degradation
Gene
(KRB) GALC [HSA:2581] [KO:K01202]
(KRBSAPA) PSAP [HSA:5660] [KO:K12382]
Other DBs
ICD-11: 8A44.4
ICD-10: E75.2
MeSH: D007965
OMIM: 245200 611722
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
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
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:8297359 (GALC)
  Authors
Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu A, Okada S
  Title
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.
  Journal
Biochem Biophys Res Commun 198:485-91 (1994)
DOI:10.1006/bbrc.1994.1071
Reference
PMID:15773042 (PSAP)
  Authors
Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M
  Title
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.
  Journal
Mol Genet Metab 84:160-6 (2005)
DOI:10.1016/j.ymgme.2004.10.004
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