KEGG DISEASE: Krabbe disease

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

Inherited metabolic disorder, Lysosomal disease

Brite

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
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06014  Sphingolipid degradation
   H00135  Krabbe disease

Pathway

hsa00600

Sphingolipid metabolism

hsa04142

Lysosome

Network

nt06014 Sphingolipid degradation

Gene

(KRB) GALC [HSA:2581] [KO:K01202]
(KRBSAPA) PSAP [HSA:5660] [KO:K12382]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

Reference

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

Reference

PMID:10833326

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

» Japanese version

All links

Network (3)   
   KEGG NETWORK (1)   
   KEGG VARIANT (2)   
Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (5)   
   PubMed (5)   
All databases (14)   

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