(B) Phenylketonuria is an inborn error of metabolism inherited as an autosomal recessive trait. It is caused by a deficiency of the enzyme phenylalani

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Accumulation of phenylalanine in body

(B) Phenylketonuria is an inborn error of metabolism inherited as an autosomal recessive trait. It is caused by a deficiency of the enzyme phenylalanine hydroxylase,which converts the amino acid phenylalanine into tyrosine. Due to the absence of this enzyme,phenylalanine accumulates in the body and is converted into phenylpyruvic acid and other derivatives,which leads to mental retardation.

Class 12 Biology Principles of Inheritance and Variation Pedigree Analysis and Mendelian disorders

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In phenylketonuria:

A
Breakdown of phenylalanine is rapid
B
Accumulation of phenylalanine in body
C
Chromosomal constitution of patient changes
D
$TSD$ gene situated on chromosome $15$ undergoes mutation

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Principles of Inheritance and Variation

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Pedigree Analysis and Mendelian disorders

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In phenylketonuria:

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