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PKU - phenylketonuria

PKU - Phenylketonuria (1) PKU means phenylketonuria which is an autosomal recessive inborn error metabolism of due to phenylalanine does not occur deficiency of phenylalanine hydroxylase (PAH) enzyme.   2 ) In this disorder the metabolism of phenylalanine does not occur due to deficiency of phenylalanine hydrolase ( 3 ) This enzyme necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine .   4) 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.   ( 5 ) PKU is caused by mutations in the PAH gene on chromosome no . 12.   6) Untreated PKU causes abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly, seizures, global developmental delay and severe intelle...