PHENYLKETONURIA

Phenylketonuria is a disorder of phenylalanine metabolism which occurs due to deficiency of phenylalanine hydroxylase or of its cofactor tetrahydrobiopterin causing accumulation of phenylalanine in body fluids and brain. Excessive phenylalanine is toxic to tissue mainly brain, which is the prime organ to be affected. Alternatively this accum lated phenylalanine are metabolized to phenylketones phenylacetate, phenylpyruvate that are excreted in urine giving rise to the term PHENYLKETONURIA. Here I am presenting a child of 1 year 6 months old girl child who presented with developmental delay which on further evaluation turned out to be a case of Phenylketonuria.