Niyas Ahammed
Department of Paediatrics, KMCT Woman and Child Hospital, Calicut, Kerala, India.
[ 1 ] - Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report
Background Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic error, characterized by Branched Chain α-Keto-acid Dehydrogenase Complex (BCKDC) deficiency. Mutations in 3 genes can lead to abnormal metabolism and accumulation of leucine, isoleucine, valine and corresponding keto-acids. MSUD affects 1 in 185,000 infants globally. Seizure is a common presentation among neonat...
نویسندگان همکار