maple syrup urine disease

Definitions of maple syrup urine disease
  1. noun
    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
    synonyms: branched chain ketoaciduria
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    type of:
    congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder
    a disease or disorder that is inherited genetically
    acetonuria, ketoaciduria, ketonuria
    excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation
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