Sphingomyelinase deficiency – Biochemistry MCQ

Sphingomyelinase deficiency is characteristic of ?

A. Fabry disease

B. Krabbe’s disease

C. Tay Sachs disease

D. Niemann Pick disease

Correct answer : D. Niemann Pick disease

Sphingomyelinase deficiency is seen in Niemann Pick disease. The enzymes deficient in the other disease are:

• Fabry disease – alpha galactosidase
• Krabbe’s disease – beta galactosidase
• Tay Sachs disease – Hexosaminidase A