Question

Absence of phenylalanine hydroxylase in liver produces a disease called __________.

• A. Alkaptonuria
• B. Phenylketonuria
• C. G$6$-PD deficiency
• D. Duchenne's muscular dystrophy

Answer 1

The correct option is B Phenylketonuria

Phenylketonuria (PKU) is a congenital disorder caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. This causes a build-up of amino acid phenylalanine in the body that causes neurological problems, skin rash, musty odour, etc.

So, the correct answer is 'Phenylketonuria'.