intermittent maple syrup urine disease
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.
MONDO:0009563
maple syrup urine disease
is_a
intermittent BCKD deficiency
exact
intermittent MSUD
exact
intermittent branched-chain 2-ketoacid dehydrogenase deficiency
exact
intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
exact
intermittent maple syrup urine disease
exact