Zoology - Principles of Inheritance and Variation Question with Solution | TestHub

Phenlyketonuria is a genetic disorder in which there is disordered metabolism of the amino acid phenylalanine, leading to severe mental retardation of affected children. The disease is caused by the absence or deficiency of the enzyme phenylalanine hydroxylase, which results in the accumulation of phenylalanine in all body fluids. There are also high levels of the ketone phenylpyruvate in the urine, hence the name of the disease.