maple syrup urine disease
1Maple 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 …
2maple 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 …
3maple syrup urine disease — ▪ pathology inherited metabolic disorder involving leucine, isoleucine, and valine (a group of branch chain amino acids). Normally, these amino acids are metabolized, step by step, by a number of enzymes, each of which is specific for each… …
4maple 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,… …
5maple syrup urine disease — (aminoacidopathy) an inborn defect of amino acid metabolism causing an excess of valine, leucine, isoleucine, and alloisoleucine in the urine, which has an odour like maple syrup. Treatment is dietary; if untreated, the condition leads to mental… …
6maple syrup urine disease — aminoacidopathy an inborn defect of amino acid metabolism causing an excess of valine, leucine, isoleucine, and alloisoleucine in the urine, which has an odour like maple syrup. Treatment is dietary; if untreated, the condition leads to mental… …
7Maple syrup urine disease (MSUD) — Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup …
8Болезнь Кленового Сиропа (Maple Syrup Urine Disease) — врожденный дефект метаболизма аминокислот, приводящий к появлению в моче большого количества валина, лейцина, изолейцина и аллоизолейцина, вследствие чего она приобретает запах кленового сиропа. Для лечения заболевания следует соблюдать строгую… …
9Disease — 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… …
10Urine — Liquid waste. The urine is a clear, transparent fluid. It normally has an amber color. The average amount of urine excreted in 24 hours is from 40 to 60 ounces (about 1,200 cubic centimeters). Chemically, the urine is mainly an aqueous (watery)… …
