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Pathway Description
Gaucher Disease
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-11-22
Gaucher disease, also known as glucocerebrosidase deficiency, acid beta-glucosidase deficiency or GBA deficiency, refers to a group of autosomal recessively inherited rare inborn error of metabolism (IEM) that affect the sphingolipid metabolism pathway. All forms of Gaucher disease is caused by a mutation in the GBA gene that encodes lysosomal acid glucosylceramidase, an enzyme that is responsible for catalyzing the formation of ceramide and glucose from glucosylceramide via a hydrolysis reaction. Gaucher disease is characterized by the intracellular buildup of glucosylceramides, particularly in phagocytes, forming what are known as Gaucher cells. Symptoms include anemia, fatigue, hepatomegaly and splenomegaly, however these may vary based on the type of Gaucher disease. For example, type 1 (GD1) involves hepato- and splenomegaly, and types 2 and 3 (GD2 and GD3) also typically affect the brain and spinal cord, and as such tend to be more severe and more likely to become lethal. Treatment for Gaucher disease includes enzyme replacement therapy for type 1, which also helps treat types 2 and 3, but as the enzymes cannot cross the blood-brain barrier, cannot help with the brain damage associated with these types. A drug called miglustat, sold as Zavesca, can also be used to treat the symptoms of type 1 Gaucher disease in individuals who cannot have enzyme replacement therapy. It is estimated that Gaucher disease affects 1 in 100,000 individuals, with the rates being higher in certain populations such as Ashkenazi Jews. GD1 is the most common in most populations representing around 90% of cases of Gaucher disease, with GD2 and GD3 representing roughly 5% each.
References
Gaucher Disease References
[Metagene: id_d=267](http://www.metagene.de/program/d.prg?id_d=267)
[Uniprot: P04062](http://www.uniprot.org/uniprot/P04062)
[OMIM: Entry 231000](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231000)
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Pubmed: 12508121
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