MSUD is an inherited metabolic disease due to a deficiency in branched chain ketoacid dehydrogenase that leads to the accumulation of BCAA (leucine, isoleucine, and valine) and their keto-acid ...

Maple syrup urine disease (MSUD ... activity impairing the degradation of the branched chain amino acids valine, leucine, and isoleucine. Classic MSUD may lead to severe neonatal encephalopathy ...

Plasma levels of amino acids (Table 1) and apparent whole-body leucine oxidation levels 5 (low levels indicating MSUD) were measured before and after transplantation in both patients and in a ...

The new infusion for maple syrup urine disease is for patients who cannot have an oral or enteral branched-chain amino ...

“Maple Syrup Urine Disease (MSUD) is a neonatal condition caused by an enzyme deficiency within the cells, which hinders the metabolism of branched-chain amino acids, specifically ...