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Q. Phenylketonuria (PKU) is an inherited disease that refers to

NTA AbhyasNTA Abhyas 2022Principles of Inheritance and Variation

Solution:

Phenylketonuria is a genetically inherited disease. It occurs due to deficiency of an enzyme phenylalanine hydroxylase which catalyses the conversion of amino acid phenylalanine into tyrosine. Phenylalanine is rather converted into phenylpyruvic acid and other derivatives and this results in the increased level of phenylpyruvate in the blood at the same time it starts depositing in various body tissues.