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 defect, ketonuria, ketoaciduria, inherited disease, hereditary condition, genetic disorder, genetic disease, acetonuria, inherited disorder, congenital disease, hereditary disease, genetic abnormality |
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