Intermittent maple syrup urine disease
Intermittent maple syrup urine disease
Definition
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
Also known as intermittent BCKD deficiency, intermittent branched-chain 2-ketoacid dehydrogenase deficiency, intermittent branched-chain alpha-ketoacid dehydrogenase deficiency, intermittent maple syrup urine disease, intermittent MSUD — per MONDO