maple syrup urine disease
- 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 and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures
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(MSUD) a genetically heterogeneous, autosomal recessive aminoacidopathy caused by mutation in genes that encode subunits of the branched-chain α-keto acid dehydrogenase complex. Branched-chain amino acids and their keto acid analogues accumulate in blood and urine, causing severe ketoacidosis, seizures, coma, physical and mental retardation, and a characteristic smell of maple syrup in the urine and on the body. The disease can be divided into four clinical phenotypes: classic, the most severe, with neonatal onset and usually rapid death; intermediate, of lessened severity and usually later onset; intermittent, with normal periods punctuated by periods of ataxia and ketoacidosis; and thiamine-responsive, caused by decreased affinity of the dehydrogenase complex for the cofactor thiamine pyrophosphate. Called also branched-chain ketoaciduria.
Medical dictionary.
2011.
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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
maple 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… … Universalium
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
maple 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… … Medical dictionary
maple 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… … The new mediacal dictionary
Maple 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 … Medical dictionary
Болезнь 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… … Медицинские термины
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
Urine — 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)… … Medical dictionary
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
