Question

Disorders of amino acid metabolism results in

• A. Alkaptonuria
• B. Phenylketonuria
• C. Albinism
• D. All of the above

Answer 1

The correct option is D All of the above

Alkaptonuria is an inherited disorder which is caused due to the mutation in HGD gene which blocks the metabolic pathway of amino acids like phenylalanine and tyrosine.

Phenylketonuria is an inborn error of metabolism that results in decreased metabolism of the amino acid - phenylalanine due to the mutation in PAH gene which results in low level of enzyme phenylalanine hydroxylase.

Albinism is caused due to the defect of melanin production which is responsible for providing colour to skin, iris etc. This defect occurs due to the absence of tyrosinase enzyme.

So, the correct answer is option D.