Maple syrup urine disease--a case report.

Maple syrup urine disease is a rare autosomal recessive inborn error of metabolism of branch chain amino acids the condition is named because of distinctive sweet odour of affected infants urine. MSUD is caused by deficiency of branch chain alpha keto acid dehydrogenase enzyme complex, leading to accumulation of the branch chain amino acids (leucine, isoleucine, valine) and their toxic by products(keto acids) in the blood and urine .Imaging is characterised by MSUD affecting myelinated white matter.The typical site of involvement is cerebellar white matter, brainstem, globuspallidus, thalamus, and cerebral peduncles. The disease classically presents in early neonatal period. we report a case of MSUD presenting in a 15 day neonate with classical MRI and Biochemical findings.