| H00135 | |
| H number | H00135 |
| Name | Krabbe disease; Globoid cell leukodystrophy |
| Description | Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06014(H00135) Sphingolipid degradation |
| Gene | (KRB) GALC [HSA:2581] [KO:K01202] (KRBSAPA) PSAP [HSA:5660] [KO:K12382] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A44.4 ICD-10: E75.2 MeSH: D007965 OMIM: 245200 611722 |
| 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: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: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 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 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 |