Gaucher Disease

New Gaucher disease study findings recently were reported by researchers at University of California

Published in Genetics and Environmental Law Weekly, February 14th, 2009

"Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. The most prevalent mutant genotype in type I Gaucher disease, N370S/N370S, is commonly thought to confer a mild phenotype presenting in adulthood," scientists writing in the Journal of Inherited Metabolic Disease report.

"To characterize a subset of more severely affected N370S homozygotes, we assessed the phenotypes at or near the time of diagnosis of all N370S homozygotes with available data enrolled in the International Collaborative Gaucher Group Gaucher Registry. N370S compound heterozygotes were analyzed for comparison, as they are expected to...

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Source: Genetics and Environmental Law Weekly (2009-02-14)

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