A CASE OF PHENYLKETONURIA

Abstract

Phenylketonuria is an autosomal recessive                     metabolic disorder which occurs due to the deficiency of      enzyme phenylalanine hydroxylase. PAH deficiency leads to high plasma concentration of phenylalanine and excretion of its metabolites (phenylalanine pyruvate, phenylalanine                  lactate) in urine. The severity of hyperphenylalaninemia              depends on the degree of enzyme deficiency. Here we report a case of phenylketonuria in an infant presented with                developmental delay, microcephaly and refractory seizure.