Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine. Classic MSUD often presents in post-natal periods, at times before newborn screening results, and is treated with a protein restricted diet supplemented with medical food and close follow up to prevent toxic buildup of blood leucine. Acute episodes of decompensation are prevented by early recognition and…
