{"orpha":562538,"name":"Autosomal recessive extra-oral halitosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MTO-deficiency","Methanethiol oxidase deficiency"],"definition":"A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-562538/","orphanet_url":"https://www.orpha.net/en/disease/detail/562538","names":{"fr":{"name":"Halitose extra-orale autosomique récessive","synonyms":["Déficit en MTO","Déficit en méthanethiol oxydase"],"definition":"Erreur innée du métabolisme rare caractérisée par une haleine dont l'odeur rappelle celle du chou et des taux élevés de méthanethiol et de diméthylsulfure dans l'air expiré par la bouche et le nez, dus à un déficit en méthanethiol oxydase. Les analyses biologiques mettent en évidence des taux élevés de diméthylsulfure, de diméthylsulfoxyde et de diméthylsulfone dans le sang, le liquide cérébrospinal (LCS) et l'urine."},"de":{"name":"Extraorale Halitosis, autosomal-rezessive","synonyms":["MTO-Mangel","Methanethiol-Oxidase-Defizienz"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch einen kohlartigen Atemgeruch mit hohen Methanthiol- und Dimethylsulfidkonzentrationen in der Mund- und Nasenatmung gekennzeichnet ist und auf einem Methanthioloxidase-Mangel beruht. Die Laboruntersuchung zeigt erhöhte Konzentrationen von Dimethylsulfid, Dimethylsulfoxid und Dimethylsulfon in Blut, Liquor (Rückenmarksflüssigkeit) und Urin."},"es":{"name":"Halitosis extraoral autosómica recesiva","synonyms":["Deficiencia de MTO","Deficiencia de metanetiol oxidasa"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por aliento con olor a col con niveles elevados de metanotiol y sulfuro de dimetilo en el aire espirado por la nariz y la boca, debido a una deficiencia de metanotiol oxidasa. Las pruebas bioquímicas muestran niveles elevados de dimetilsulfuro, dimetilsulfóxido y dimetilsulfona en sangre, líquido cefalorraquídeo (LCR) y orina."},"it":{"name":"Alitosi extra-orale autosomica recessiva","synonyms":["Deficit di MTO","Deficit di metanetiolo ossidasi"]},"nl":{"name":"Autosomaal recessieve extraorale halitose","synonyms":["MTO-deficiëntie","Methaanthiol-oxidasedeficiëntie"],"definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door een koolachtige geur van adem in mond en neus met hoge gehaltes van methaanthiol en dimethylsulfide, ten gevolge van deficiëntie van methaanthiol-oxidase. Laboratoriumonderzoek toont verhoogde gehaltes van dimethylsulfide, dimethylsulfoxide en dimethylsulfon in bloed, cerebrospinaal vocht (CSV) en urine."},"pt":{"name":"Halitose extra-oral autossómica recessiva","definition":"Anomalia inata rara do metabolismo caracterizado por hálito com odor de repolho e níveis elevados de metanotiol e dimetilsulfeto na respiração oral e nasal, devido à deficiência de metanotiol oxidase. O exame laboratorial mostra níveis elevados de dimetilsulfeto, dimetilsulfóxido e dimetilsulfona no sangue, líquido cefalorraquidiano (LCR) e urina."},"pl":{"name":"Autosomalny recesywny pozaustny cuchnący oddech","synonyms":["Niedobór oksydazy metanotiolu"],"definition":"Rzadko występujący wrodzony błąd metabolizmu charakteryzujący się charakterystycznym, podobnym do kapusty, zapachem wydychanego powietrza, z wysokim poziomem metanotiolu i siarczku dimetylu w wydychanym powietrzu, spowodowany niedoborem oksydazy metanotiolu. Badanie laboratoryjne wykazuje podwyższony poziom siarczku dimetylu, dimetylosulfotlenku i dimetylosulfonu we krwi, płynie mózgowo-rdzeniowym (CSF) i moczu."},"cs":{"name":"Autozomálně recesivní extraorální halitóza","synonyms":["MTO-deficiency","Methanethiol oxidase deficiency"]},"uk":{"name":"Аутосомно-рецесивний екстраоральний галітоз","synonyms":["Дефіцит метанетіолоксидази","Дефіцит MTO"],"definition":"A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine."},"zh":{"name":"常染色体隐性遗传性口外源性口臭","synonyms":["甲硫醇氧化酶缺乏症"]},"tr":{"name":"Otozomal resesif ekstra-oral ağız kokusu","synonyms":["MTO-eksikliği","Metantiyol oksidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"618148","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0034186","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4748387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SELENBP1","name":"selenium binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29255262[PMID]","hgnc":"10719","ensembl":"ENSG00000143416","omim":"604188","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}