A CASE REPORT ON PHENYLKETONURIA: EARLY INTERVENTION AND TREATMENT
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, most commonly caused by deficiency of phenylalanine hydroxylase (PAH), the hepatic enzyme that converts phenylalanine (Phe) to tyrosine. Untreated or inadequately treated PAH deficiency results in persistent elevation of blood and...