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Phenylketonuria MCQ - Practice Questions with Answers
Edited By admin | Updated on Sep 18, 2023 18:34 AM | #NEET
Quick Facts
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Phenylketonuria is considered one of the most asked concept.
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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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