Question

Which disorder occurs due to a deficiency of galactose-1-phosphate uridyltransferase?

• A. Phenylketonuria
• B. Galactosemia
• C. Alkaptonuria
• D. Maple Syrup Urine Disease

Hint:

{Galactosemia} results from deficiency of {galactose-1-phosphate uridyltransferase (GALT)}, leading to accumulation of galactose metabolites in the body.

Answer 1

The Correct Option is B

Concept: Galactosemia is a genetic metabolic disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme is required for the normal metabolism of galactose, a sugar derived from lactose. When the enzyme is deficient, galactose-1-phosphate accumulates in the body, leading to toxic effects, especially in the liver, brain, and eyes.
Step 1: Identify the disorder caused by deficiency of galactose-1-phosphate uridyltransferase.

• Phenylketonuria – Caused by deficiency of phenylalanine hydroxylase.
• Galactosemia – Caused by deficiency of galactose-1-phosphate uridyltransferase.
• Alkaptonuria – Caused by deficiency of homogentisic acid oxidase.
• Maple Syrup Urine Disease – Caused by deficiency of branched-chain ketoacid dehydrogenase.

Therefore, the correct answer is Galactosemia.