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" : genetic abnormality, ketonuria, ketoaciduria, inherited disease, genetic disease, genetic defect, congenital disease, hereditary condition, genetic disorder, acetonuria, hereditary disease, branched chain ketoaciduria, inherited disorder |
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