Sphingomyelinase enzyme assay in Niemann-Pick disease

Niemann-Pick group of diseases are rare autosomal recessive disorders of lysosomal enzymes. These are divisible into six types depending on clinical and biochemical features. On the basis of sphingomyelinase assay in five cases of Niemann-Pick disease, three cases were classified as type IA, one as type IS and one as type IIS. Their clinicopathological profiles are compared with 17 cases reported previously from India.