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Niemann-Pick foamy cells

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Niemann-Pick

Alternative Names: Sphingomyelinase deficiency (type A Niemann-Pick disease) Prevention: All types of Niemann-Pick are autosomal recessive. This means that both parents are carriers -- they each carry one copy of the abnormal gene without having any signs of the disease themselves. Text Continues Below When both parents are carriers, there is a 25% chance that their child will have the disease and a 50% 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. Diagnosis in the fetus 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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