Sandeep Sai Chimbili1 , Puneet Shirbur2 , Astha Agarwal3
Maple Syrup Urine Disease (MSUD) is also known as Leucine encephalopathy. It is an autosomal-recessive metabolic disorderr involving catabolic pathway of the branched-chain amino acids (leucine, isoleucine, valine). There is decreased activity of branched chain α-keto acid dehydrogenase complex resulting in increased brain levels of leucotoxic metabolites which in turn induce cytotoxic or intramyelinic oedema. This build-up of ketoacids gives rise to the classic ‘maple syrup’ or burnt sugar smell of urine.
