Question

Which enzyme is deficient in Gaucher’s disease?

• A. Hexosaminidase A
• B. Glucocerebrosidase
• C. Alpha-galactosidase A
• D. Sphingomyelinase

Hint:

Mnemonic: “Gaucher = Gluco” for glucocerebrosidase deficiency.

Answer 1

The Correct Option is B

Gaucher's disease is a genetic disorder caused by a deficiency in the enzyme glucocerebrosidase. This enzyme is crucial for the breakdown of glucocerebrosides, a type of glycolipid. When glucocerebrosidase is deficient, glucocerebrosides accumulate in cells, particularly in macrophages, leading to their enlargement and dysfunction. This accumulation primarily occurs in the spleen, liver, and bone marrow, leading to symptoms such as enlarged organs, bone pain, and fatigue.

Option	Description
Hexosaminidase A	Enzyme involved in Tay-Sachs disease
Glucocerebrosidase	Deficient in Gaucher’s disease
Alpha-galactosidase A	Related to Fabry disease
Sphingomyelinase	Deficient in Niemann-Pick disease

In summary, the deficiency of glucocerebrosidase leads to the symptoms observed in Gaucher's disease due to the accumulation of glucocerebrosides in macrophages.