American Board of Psychiatry and Neurology (ABPN) Practice Exam

Question: 1 / 1275

Niemann-Pick disease is a deficiency in which enzyme?

Arylsulfatase-A

Sphingomyelinase

Niemann-Pick disease is specifically caused by a deficiency in sphingomyelinase, an enzyme that is crucial for the metabolism of sphingomyelin, a type of lipid found in cell membranes. This deficiency leads to the accumulation of sphingomyelin in various organs, particularly the liver, spleen, and brain, resulting in a range of clinical symptoms such as hepatosplenomegaly, neurologic impairment, and in some cases, early death.

The importance of sphingomyelinase lies in its role in breaking down sphingomyelin into ceramide and phosphorylcholine. When this enzyme is deficient, the body cannot effectively process sphingomyelin, leading to toxic build-up that disrupts normal cellular functions. Understanding the metabolic pathways involved in Niemann-Pick disease highlights the crucial role of sphingomyelinase and underscores the broader implications of lysosomal storage disorders.

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Hexosaminidase-A

Phenylalanine hydroxylase

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