A CASE OF PHENYLKETONURIA

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.