| Information | |
|---|---|
| has gloss | (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 branched chain ketoaciduria, maple syrup urine disease |
| has gloss | eng: Maple syrup urine disease (MSUD) is a genetic medical disorder. It causes a problem with how the human body deals with amino acid. It is also called branched chain ketoaciduria. Maple syrup urine disease affects about 1 in 185,000 infants worldwide. |
| has gloss | eng: Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine. |
| lexicalization | eng: branched chain ketoaciduria |
| lexicalization | eng: Maple Syrup Urine Disease |
| lexicalization | eng: Maple syrup urinedisease |
| lexicalization | eng: Maple-syrup-urine disease |
| subclass of | (noun) a disease or disorder that is inherited genetically inherited disease, genetic disorder, hereditary condition, inherited disorder, congenital disease, genetic abnormality, genetic defect, hereditary disease, genetic disease |
| subclass of | (noun) excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation ketoaciduria, ketonuria, acetonuria |
| Meaning | |
|---|---|
| German | |
| has gloss | deu: Unter der Ahornsirupkrankheit (engl.: Maple syrup urine disease) oder Verzweigtkettenkrankheit oder Leuzinose versteht man eine autosomal-rezessiv vererbte Krankheit, die Störungen im Aminosäurestoffwechsel hervorruft. Die Krankheit tritt nur selten auf (1:216.000), allerdings gibt es Häufungen in Georgien (1:123.000) und bei den Mennoniten (1:760), einer Religionsgemeinschaft im US-Bundesstaat Pennsylvania. |
| lexicalization | deu: Ahornsirup-Krankheit |
| lexicalization | deu: Ahornsirupkrankheit |
| lexicalization | deu: Leuzinose |
| French | |
| has gloss | fra: La maladie du sirop d'érable est une maladie génétique congénitale dans laquelle le corps est incapable de traiter correctement certains acides aminés. |
| lexicalization | fra: Maladie du sirop d'erable |
| lexicalization | fra: maladie du sirop d'érable |
| Japanese | |
| has gloss | jpn: メープルシロップ尿症（メープルシロップにょうしょう）とは、先天的な遺伝子の異常によって、α-ケト酸の代謝が阻害されて起る疾病である。尿や汗からメープルシロップのような特有のにおいがするためこの名がついた。 英語名「Maple Syrup Urine Disease」から、略称をMSUDという。 また、別名を楓（カエデ）糖尿症ともいう。 |
| lexicalization | jpn: メープルシロップ尿症 |
| Malay (macrolanguage) | |
| has gloss | msa: Penyakit Kencing Sirap Maple (Maple syrup urine disease - MSUD) merupakan sejenis penyakit genetik dalam kelompok Kecacatan Metabolik Semulajadi Inborn Errors Metabolism (IEM) yang biasanya dikesan pada bayi. Pesakit menghadapi kecacatan genetik yang menyebabkan tubuh pesakit tidak mampu menghasilkan enzim tertentu. Rawatan biasanya membabitkan rawatan gantian enzim. Penyakit ini mengakibatkan air kencing pesakit berbau mapel. |
| lexicalization | msa: Penyakit Kencing Sirap Maple |
| Polish | |
| has gloss | pol: Choroba syropu klonowego (ang. maple syrup urine disease, MSUD) – genetycznie uwarunkowana choroba metabolizmu aminokwasów o dziedziczeniu autosomalnym recesywnym . |
| lexicalization | pol: Choroba syropu klonowego |
| Portuguese | |
| has gloss | por: A doença da urina em xarope de ácer (também chamada de Doença da urina em xarope de bordo ou leucinose) é uma doença hereditária em que o organismo não consegue precessar correctamente certos aminoácidos (leucina, isoleucina e valina). Estes aminoácido não metabolizados passam para a urina, dando-lhe um odor semelhante a xarope de ácer (maple syrup). |
| lexicalization | por: Doença da urina em xarope de ácer |
| Russian | |
| has gloss | rus: Лейцино́з (разветвлённоцепочечная кетонурия, болезнь мочи с запахом кленового сиропа) — врождённое нарушение обмена, ферментопатия. |
| lexicalization | rus: Лейциноз |
| Swedish | |
| has gloss | swe: MSUD, förkortning av Maple syrup urine disease, sällsynt, autosomalt recessivt nedärvd ämnesomsättningssjukdom som kännetecknas av attacker med medvetandesänkning och kramper och på sikt en progredierande hjärnskada om inte sjukdomen upptäcks. |
| lexicalization | swe: MSUD |
| Links | |
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| similar | e/Maple syrup urine disease |
| Media | |
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| media:img | Autorecessive.jpg |
| media:img | Autorecessive.svg |
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