HYPOPIGMENTED HAIR - A CLUE TO DIAGNOSE A NEUROMETABOLIC DISORDER IN A CHILD

Abstract


Phenylketonuria (PKU) is an autosomal recessive disorder which occurs due to defective phenylalanine metabolism. It manifests as mental retardation, epilepsy and developmental delay. Here we report a child who presented with developmental delay and seizures. Hypopigmented hair on examination gave us a clue to suspect Phenylketonuria and investigations confirmed the same.

Comments


Article Info