Open AccessType 1 Gaucher Disease
Author(s) -
Manisha Balwani,
Laura Fuerstman,
Ruth Kornreich,
Lisa Edelmann,
Robert J. Desnick
Publication year - 2010
Publication title -
archives of internal medicine
Language(s) - English
Resource type - Journals
eISSN - 1538-3679
pISSN - 0003-9926
DOI - 10.1001/archinternmed.2010.302
Subject(s) - glucocerebrosidase , disease , type (biology) , medicine , biology , ecology
Type 1 Gaucher disease (GD), an autosomal recessive lysosomal storage disease, is most prevalent in the Ashkenazi Jewish (AJ) population. Experts have suggested that up to two-thirds of AJ homozygotes for the common mutation (N370S) are asymptomatic throughout life and never come to medical attention. However, there are no systematic studies of N370S homozygotes to support this presumption.
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