|

maple syrup urine disease

DEFINITIONS OF: maple syrup urine disease

1

n 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
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
WORD FAMILY
USAGE EXAMPLES