Intermittent maple syrup urine disease

MONDO:0017053

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 MSUD, intermittent branched-chain 2-ketoacid dehydrogenase deficiency, intermittent branched-chain alpha-ketoacid dehydrogenase deficiency, intermittent maple syrup urine disease

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