Queston #14301Note

Neurogenetics

Neimann-Pick disease is a lysosomal storage disease that occurs secondary to a deficiency of sphingomyelinase and the accumulation of sphingomyelin. Patients with Neimann-Pick disease present with development regression, hepatosplenomegaly, and cherry-red macula.

Hexosaminidase A deficiency is associated with Tay-Sachs disease. Glucosylceramidase deficiency is associated with Gaucher disease. Galactosylceramidase deficiency is associated with Krabbe disease. Arylsulfatase A deficiency is associated with metachromatic leukodystrophy.