ISOLATED DEVELOPEMENTAL DELAY- A RARE CAUSE

Homocystinuria, an inborn error of metabolism is a rare disorder. It usually presents with ectopia lentis, stroke, mental retardation, anaemia and skeletal abnormalities. Our child is a 1yr 4months old male presented with Global developemental delay, uneventful perinatal period with Blonde sparse hair, vision and hearing normal, other systems normal .Investgations revealed of very high Methionine, , high plasma and urine Homocystine. Diagnosed as Homocystinuria (Homocystinemia) probably due to cystathionine B synthase deficiency. The child was started on Tab. Pyridoxine and methionine restricted diet.