Maple Syrup Urine Disease (MSUD) is an inherited disorder. This disease affects the metabolism of certain amino acids. Because they cannot be fully broken down, they accumulate in the urine. In severe form this disease can cause brain damage and leads to death.

Its gene name is BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide and the gene ID number is 593.

This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutataions in this gene result in maple syrup unrine disease.