Niemann-Pick Disease

Niemann-Pick disease refers to a group of inherited metabolic disorders in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. It is included in a family of lysosomal storage diseases. The disease has several forms- Type A, Type B and Type C (earlier classification included types A, B, C, and D)

Niemann-Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). This enzyme is required for breaking down sphingomyelin, which is a product of fat metabolism. The lack of ASM leads to the collection of sphingomyelin or cholesterol in the body. Niemann-Pick disease Type C arises due to a defect in cholesterol and glycolipid transport mechanisms.

According to another classification, Niemann-Pick disease is classified into two types: Niemann-Pick disease, SMPD1-associated (which includes Type A and Type B disease), and Niemann-Pick disease, Type C.


Some forms of the disease can be diagnosed during ante natal screening (techniques like chorionic villus sampling or amniocentesis).After birth, the diagnosis is made by a liver biopsy where liver tissue specimens are obtained and studied under a microscope.

Niemann-Pick disease does not have a complete cure, though treatments that halt the disease progression are being studied. Affected children tend to die of infection or progressive dysfunction of the central nervous system.