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