Phenylketonuria (PKU) ||Class 12 Biology

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     Phenylketonuria (PKU) is an inborn error of metabolism inherited as the autosomal recessive trait. Phenylketonuria affects about 1 in 12,000 babies. Males and females are affected equally.
     The disease is due to the lack of an enzyme phenylalanine hydroxylase (PAH). It  coverts the amino acid known as phenylalanine (Phe) to the amino acid tyrosine (Tyr).
    Due to lack of the enzyme phenylalanine hydroxylase the phenylalanine gets accumulated into the body and gets converted into phenyl pyruvic acid and other derivatives.
    A baby born to a mother who has phenylketonuria may have heart problems, a small head and low birth weight. Untreated phenylketonuria can lead to mental retardation, behavioral problems, intellectual disability etc.
    Phenylketonuria also known as phenylalanine hydroxylase deficiency and Folling disease.
    Phenylalanine are also excited through urine because of its poor absorption by kidney.
    Phenylketonuria is not curable but people who follow prescribed dietary treatment from birth may have no symptoms.

Location: India

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