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What Are Autosomal Recessive Disorders?

Identify the ...

Question

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

A & B

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B

B & C

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C

D & A

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D

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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Reason: In phenylketonuria, phenylalanine is converted into tyrosine which leads to absence of phenylalanine in the body

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What Are Autosomal Recessive Disorders?

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