Question
Long Answer Questions: PKU.
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Answer
- PKU means phenylketonuria which is an autosomal recessive inborn error.
- In this disorder the metabolism of phenylalanine does not occur due to deficiency of phenylalanine hydroxylase (PAH) enzyme.
- This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine.
- When PAH activity is reduced, phenylalanine accumulates in blood and cerebrospinal fluid and is converted into phenylpyruvate or phenyl-ketone which is a toxic compound. This may cause mental retardation. Excess phenylalanine is excreted in urine, hence this disease is called phenylketonuria.
- PKU is caused by mutations in the PAH gene on chromosome no. 12.
- Untreated PKU causes abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intellectual impairment. However, at birth if an infant is checked for PKU, the further abnormalities can be avoided.
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