What is the pathologic basis of Fabry disease?
A)Increased degradation of globotriaosylceramide
B)Increased accumulation of globotriaosylceramide
C)Deficiency in the number of liver lysosomes
D)Excessive number of liver lysosomes

Question

Quizplus · Accepted Answer

Fabry disease is a genetic lysosomal storage disease in which there is a deficiency of the enzyme alpha-galactosidase A (also known as ceramide trihexosidase) that results in the accumulation of globotriaosylceramide (GL-3) within the lysosomes of many tissues and organs. It does not change the number of lysosomes present in the liver (just their function).

What Is the Pathologic Basis of Fabry Disease