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Niemann-Pick disease is any of a group of lysosomal storage diseases, transmitted genetically, with the common effect of sphingomyelin storage in various tissues of the body. The tissues affected the worst by the disorder are the brain, spleen, and the lungs.
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Niemann-Pick disease is inherited in an autosommal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in individuals of Eastern European (Ashkenazi) ancestry is about 1/90. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Niemann-Pick.
There are three types of Niemann-Pick disease. Types A and B are characterized by a deficiency of sphingomyelinase, which results in an accumulation of sphingomyelin. Type C is characterized by a mutation in the NPC1 or HE1 proteins, which results in an accumulation of cholesterol in various cells.
Types A and C are progressive neurological diseases. Type B has little or no neurological involvement, although respiratory, cardiac, and liver problems can be severe.
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