Identify the correct statements related to phenylketonuria:

A. This disease is caused due to gene mutation

B. The affected individuals exhibit mental retardation and stunted growth

C. Pigmented patches are seen on the skin

D. Non-pigmented hair and eyes occur

A & B

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B & C

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D & A

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A, B,C & D

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Solution

The correct option is D
A, B,C & D

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Phenylketonuria is a syndrome characterized by secretion of excess phenylalanine in urine, mental retardation, stunted growth, reduction in hair and skin pigmentation. The disorder is an example of pleiotropy.

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Identify the correct statements related to phenylketonuria:

A. This disease is caused due to gene mutation

B. The affected individuals exhibit mental retardation and stunted growth

C. Pigmented patches are seen on the skin

D. Non-pigmented hair and eyes occur

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