branched chain ketoaciduria

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
Hypernyms:

Useful english dictionary. 2012.

Look at other dictionaries:

  • branched-chain ketoaciduria — maple syrup urine disease …   Medical dictionary

  • ketoaciduria — noun excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation • Syn: ↑ketonuria, ↑acetonuria • Hypernyms: ↑symptom • Hyponyms: ↑maple syrup urine disease, ↑branched chain ketoaciduria …   Useful english dictionary

  • ketoaciduria — Excretion of urine having an elevated content of keto acid s. branched chain k. SYN: maple syrup urine disease. * * * ke·to·ac·id·uria (ke″to as″ĭ duґre ə) the presence of keto acids in the urine …   Medical dictionary

  • Maple syrup urine disease — Classification and external resources Isoleucine (pictured above), leucine, and valine are the branched chain amino acids that build up in MSUD. ICD …   Wikipedia

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • maple syrup urine disease — ma·ple syr·up urine disease mā pəl sər əp , sir əp n a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid …   Medical dictionary

  • acetonuria — noun excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation • Syn: ↑ketonuria, ↑ketoaciduria • Hypernyms: ↑symptom • Hyponyms: ↑maple syrup urine disease, ↑branched chain ketoaciduria …   Useful english dictionary

  • maple syrup urine disease — 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 • Syn: ↑branched chain ketoaciduria • Hypernyms: ↑ketonuria,… …   Useful english dictionary

  • congenital disease — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑inherited disease, ↑inherited disorder, ↑hereditary disease, ↑ …   Useful english dictionary

  • genetic abnormality — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disease, ↑genetic disorder, ↑genetic defect, ↑congenital disease, ↑inherited disease, ↑inherited disorder, ↑hereditary disease, ↑ …   Useful english dictionary

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