EP010: Conservative management with serial biochemical monitoring for newborn screen detected Maple Syrup Urine Disease (MSUD) patients without metabolic decompensation

Abstract

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism characterized by deficiency of branched-chain alpha-keto acid dehydrogenase that metabolizes the three branched-chain amino acids (BCAAs) leucine, isoleucine, and valine. The result of this enzyme deficiency is a toxic buildup of metabolites, typically within the first 24-48 hours of life. The main neurotoxic effects are due to accumulation of large amounts of leucine which can lead to severe cerebral edema. Treatment requires immediate medical intervention to lower leucine levels.