Intermediate maple syrup urine disease
Intermediate maple syrup urine disease
Definition
Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
Also known as Intermediate BCKD deficiency, Intermediate branched-chain 2-ketoacid dehydrogenase deficiency, Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency, intermediate maple syrup urine disease, Intermediate MSUD — per MONDO