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Q. Which of the following is true about Phenylketonuria?

NTA AbhyasNTA Abhyas 2020Principles of Inheritance and Variation

Solution:

Phenylketonuria is an inborn error of metabolism is also inherited as the autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalnine into tyrosine, as a result it is converted into phenylpyruvic acid and other derivatives. Accumulation in brain results in mental retardation.