Niemann-Pick
Alternate Names : Sphingomyelinase Deficiency (Type A Niemann-Pick Disease)
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Niemann-Pick Prevention
All types of Niemann-Pick are autosomal recessive. This means that both parents carry one copy of the abnormal gene, without having any signs of the disease themselves. In this state the parents are commonly called carriers.
When both parents are carriers, there is a 1 in 4 chance that a child will be affected with the disease and 1 in 2 chance that a child will be a carrier.
Carrier detection testing for all families is not yet reliable. The mutations for Types A and B have been extensively studied, particularly among the Ashkenazi Jewish population, and DNA tests for these forms of Niemann-Pick are available. Mutations have been identified in the DNA of many patients with type C Niemann-Pick disease -- carrier detection may be possible. Antenatal diagnosis (diagnosis in the fetus) of NPD is available in a limited number of centers. Carrier detection is possible for other families only after their specific mutation is identified.
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