Purification and Properties of Acid Sphingomyelinase from Human Urine
Lysosomal sphingomyelinase catalyses the hydrolyses of the membrane lipid sphingomyelin to ceramide and phosphorylcholine. Deficiency of this enzyme, as is the case in patients suffering from Niemann-Pick disease type A or B, leads to the lysosomal accumulation of spingomyelini. In another group of Niemann-Pick patients (types C, D and E) the level of acid sphingomyelinase activity appears to be essentially normal or close to normal1. However, spingomyelin accumulates, but in modest amounts, together with other glycoshingolipids and cholesterol1. Until now there has been no satisfactory explanation for the biochemical defect underlying these forms of the disease.
KeywordsHuman Urine Acid Sphingomyelinase Urinary Enzyme High Molecular Weight Component Lysosomal Accumulation
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