KEGG   DISEASE: H00126Help
Entry
H00126                      Disease                                

Name
Gaucher disease
Description
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The sub-types are Type 1, 2 and 3.
Category
Inherited metabolic disease; Lysosomal storage disease; Nervous system disease
BRITE hierarchy
Pathway
Other glycan degradation
Sphingolipid metabolism
Lysosome
Gene
GBA; glucosylceramidase [HSA:2629] [KO:K01201]
PSAP; prosaposin [HSA:5660] [KO:K12382]
Marker
Glucocerebroside [GL:G10238] [CPD:C01190]
Drug
Enzyme-replacement therapy
Hematopoietic stem cell transplantation
Alglucerase [DR:D02810]
Imiglucerase [DR:D03020]
Miglustat [DR:D05032]
Velaglucerase alfa [DR:D09029]
Comment
The most common mutations: N370S, L444P, 84GG, IVS2+1G>A, V394L, del55bp, D409H, R496H, and RecNciI.
Other DBs
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
Reference
  Authors
Butters TD
  Title
Gaucher disease.
  Journal
Curr Opin Chem Biol 11:412-8 (2007)
Reference
  Authors
Sidransky E
  Title
Gaucher disease: complexity in a "simple" disorder.
  Journal
Mol Genet Metab 83:6-15 (2004)
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)
Reference
PMID:23400823 (mutations)
  Authors
Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A
  Title
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
  Journal
Am J Hematol 88:179-84 (2013)

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