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Q.

Phenylketonuria is an

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a

autosomal dominant disorder

b

autosomal recessive disorder

c

sex-linked dominant disorder

d

sex-linked recessive disorder

answer is B.

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Detailed Solution

Phenylketonuria is an inborn error of metabolism inherited as the autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a result of this phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives. Accumulation of these in brain results in mental retardation. These are also excreted through urine because of its poor absorption by the kidney.

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