Niemann-Pick Type A & B

Disease characteristics
Niemann-Pick disease is an autosomal recessive disorder affecting lipid metabolism (the breakdown and use of fats and cholesterol in the body), in a way, which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.

Prevalence
Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The carrier frequency within the Ashkenazi population is approximately 1 in 75 people.

Mutation
Mutations in the SMPD1 gene cause Niemann-Pick disease types A and B. Up to now several novel mutations have been identified in this gene that lead to the deficiency of acid sphingomyelinase enzyme.

Testing criteria and symptoms
Being of Ashkenazi Jew