Glucosylceramidase | definition of glucosylceramidase by Medical dictionary
glucosylceramidase /glu·co·syl·cer·am·i·dase/ (gloo″ko-sil-ser-am´ĭ-dās) an enzyme that catalyzes the hydrolytic cleavage of glucose from glucocerebrosides to form ceramides in the lysosomal degradation of sphingolipids. Deficiency of enzyme activity, an autosomal recessive trait, results in Gaucher disease.
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Key words: Gaucher disease, glucosylceramidase, treatment
Lysosomal enzyme activity due to a mutation in the glucosylceramidase (GluCer) gene is decreased or absent, resulting in intracellular accumulation of undegraded substrates.