A disorder characterized by a defect in glucocerebrosidase that results in a macrophage with cytoplasm appearing wrinkled or striated is:
A) Niemann Pick disease
B) Fabry's disease
C) Gaucher's disease
D) Tay Sachs disease

Question

Quizplus · Accepted Answer

The disorder described is Gaucher's disease, which is caused by a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of glucocerebroside in various organs, including macrophages, causing their cytoplasms to appear wrinkled or striated. Niemann-Pick disease is characterized by a deficiency in sphingomyelinase and results in the accumulation of sphingomyelin, while Fabry's disease is caused by a deficiency in alpha-galactosidase A and results in the accumulation of globotriaosylceramide. Tay Sachs disease is caused by a deficiency in hexosaminidase A and results in the accumulation of GM2 ganglioside in the brain.

A Disorder Characterized by a Defect in Glucocerebrosidase That Results