Niemann-Pick Disease

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Niemann-Pick Disease

Niemann-Pick disease (NP) is an inherited metabolic disorder. With it, harmful amounts of a fatty substance build up in the spleen, liver, lungs, bone marrow, and, in some people, the brain. The disease is subdivided into 4 related types.
• In types A and B, there is not enough activity of an enzyme called sphingomyelinase. This causes the build up of toxic amounts of sphingomyelin. That is a fatty substance present in every cell of the body.
• Type A, Infantile NP is the most common type. It happens in infants and it causes jaundice, enlargement of the liver and profound brain damage. Children with this type rarely live beyond 18 months.
• Type B, Juvenile Non-neuronopathic NP, involves enlargement of the liver

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