KEGG   DISEASE: Fabry disease
Entry
H00125                      Disease                                

Name
Fabry disease;
Anderson-Fabry disease
  Supergrp
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Description
Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00125  Fabry disease
  Lysosomal storage diseases
   H00125  Fabry disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00125  Fabry disease
Pathway
hsa00600  Sphingolipid metabolism
hsa00603  Glycosphingolipid biosynthesis - globo and isoglobo series
hsa04142  Lysosome
Network
nt06014  Sphingolipid degradation
  Element
N00645  GLA deficiency in galabiosylceramide hydrolysis
N00652  GLA mutation
Gene
GLA; alpha-galactosidase [HSA:2717] [KO:K01189]
Drug
Agalsidase alfa [DR:D02784]
Agalsidase beta [DR:D03228]
Migalastat hydrochloride [DR:D05031] (GLA variant)
Other DBs
ICD-11: 5C56.01
ICD-10: E75.2
MeSH: D000795
OMIM: 301500
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
Zarate YA, Hopkin RJ
  Title
Fabry's disease.
  Journal
Lancet 372:1427-35 (2008)
DOI:10.1016/S0140-6736(08)61589-5
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, Coppola S, Liu SL
  Title
Insights into the diagnosis and treatment of lysosomal storage diseases.
  Journal
Arch Neurol 60:322-8 (2003)
DOI:10.1001/archneur.60.3.322
Reference
  Authors
Schiffmann R
  Title
Fabry disease.
  Journal
Pharmacol Ther 122:65-77 (2009)
DOI:10.1016/j.pharmthera.2009.01.003
Reference
  Authors
Moller AT, Jensen TS
  Title
Neurological manifestations in Fabry's disease.
  Journal
Nat Clin Pract Neurol 3:95-106 (2007)
DOI:10.1038/ncpneuro0407
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