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Niemann-Pick Disease Reviewed 5-27-2003 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Niemann-Pick disease?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Niemann-Pick disease? Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate 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, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Types C and D are characterized by a defect that disrupts the transport of cholesterol between brain cells. Type A, Infantile NP is the most common type, and occurs in infants. It is characterized by jaundice, enlargement of the liver, and profound brain damage. Children with this type rarely live beyond 18 months. Type B, Juvenile Nonneuronopathic NP, involves enlargement of the liver and spleen, which characteristically occurs in the pre-teen years. The brain is not affected. Types C and D may appear early in life or be delayed into the teen years. Children with these types have only moderate enlargement of the spleen and liver, but brain damage may be extensive and cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. Type D only occurs in people with an ancestral background in Nova Scotia. Is there any treatment? What is the prognosis? What research is being done? Ara Parseghian Medical Research Foundation
[For Niemann-Pick Type C Disease]
National Niemann-Pick Disease Foundation, Inc.
National Tay-Sachs and Allied Diseases Association
Jim Lambright Niemann-Pick Foundation
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