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. Synonym: branched chain ketoaciduria.
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Words linked to "Maple syrup urine disease" : hereditary disease, inherited disease, ketonuria, ketoaciduria, genetic disease, congenital disease, genetic disorder, acetonuria, inherited disorder, genetic defect, genetic abnormality, hereditary condition |
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