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Phenylketonuria - Practice Questions & MCQ

Edited By admin | Updated on Sep 18, 2023 18:34 AM | #NEET

Quick Facts

  • Phenylketonuria is considered one of the most asked concept.

Concepts Covered - 0

Phenylketonuria
  • It is an inborn error of metabolism, which is inherited as an autosomal recessive trait.
  • It is a rare disease in which the individual is born without the ability to properly breakdown an amino acid called phenylalanine.
  • Individuals with this disease have a missing enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid phenylalanine into tyrosine in the liver. 
  • This phenylalanine is accumulated and gets converted into phenyl pyruvic acid and other derivatives leading to mental retardation.
     

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