maple syrup urine disease
Noun
Meaning
an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
Source: WordNetAlternative names
maple-syrup urine disease
maple-syrup-urine disease
Synonyms
MSUD
branched chain ketoaciduria
amino acid metabolism disorder
amino acidemia
amino aciduria
isovaleric acidemia
bckd deficiency
bckdh deficiency
branched-chain alpha-keto acid dehydrogenase deficiency
ketosis-valeric acidemia
ketotic branched-chain aminoaciduria
ketotic branched-chain ketoaciduria
ketotic hyperglycinemia
ketotic maple syrup urine disease
ketovaleric acidemia
Show all synonyms