{"orpha":1035,"name":"Beta-mercaptolactate cysteine disulfiduria","type":"Biological anomaly","group":"Disorder","status":"historical","flags":[],"synonyms":["3-mercaptopyruvate sulfurtransferase deficiency","Ampola syndrome","MCDU"],"definition":"An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1035/","orphanet_url":"https://www.orpha.net/en/disease/detail/1035","names":{"fr":{"name":"Bêta-mercaptolactate cystéine disulfidurie","synonyms":["Déficit en 3-mercaptopyruvate sulfurtransferase","MCDU","Syndrome d'Ampola"],"definition":"Trouble rare du métabolisme du cycle de la méthionine et des acides aminés sulfurés, caractérisé par une excrétion urinaire accrue de bêta-mercaptolactate-cystéine disulfure (due à un déficit en mercaptopyruvate sulfurtransférase dans les érythrocytes), entraînant un résultat positif au test au cyanure-nitroprussiate. Une association avec une déficience intellectuelle, une luxation congénitale du cristallin et des troubles du comportement a été rapportée, mais le lien de causalité n'a pas été confirmé. Aucun cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Beta-Mercaptolaktat-Cystein Disulfidurie","synonyms":["3-Mercaptopyruvat-Sulfurtransferase-Mangel","Ampola-Syndrom","MCDU"],"definition":"Eine extrem seltene Störung des Methionin-Zyklus und des Schwefel-Aminosäuren-Stoffwechsels, die durch eine erhöhte Urinausscheidung von Beta-Mercaptolactat-Cystein-Disulfid (aufgrund eines Mangels an Mercaptopyruvat-Sulfurtransferase-Aktivität in den Erythrozyten) gekennzeichnet ist und zu einem positiven Cyanid-Nitroprussid-Test führt. Es wurde über einen Zusammenhang mit Intelligenzminderung, kongenitaler Linsenverschiebung und Verhaltensauffälligkeiten berichtet, der Kausalzusammenhang ist jedoch noch nicht geklärt. Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Disulfiduria por beta-mercaptolactato-cisteína","synonyms":["MCDU","Síndrome de Ampola","Deficiencia de 3-mercaptopiruvato sulfurotransferasa"],"definition":"Es un trastorno extremadamente infrecuente del ciclo de la metionina y del metabolismo de los aminoácidos sulfurados caracterizado por un incremento de la excreción urinaria de disulfuro de beta-mercaptolactato-cisteína (debido a una deficiente actividad mercaptopiruvato sulfurtransferasa eritrocitaria), rindiendo un resultado positivo en la prueba de nitroprusiato de cianuro. Se ha descrito la asociación con discapacidad intelectual, luxación congénita del cristalino y trastornos de conducta, aunque aún no se ha establecido el vínculo causal. No se han descrito más casos en la literatura desde 1981."},"it":{"name":"Disulfiduria da beta-mercaptolattato cisteina","synonyms":["Deficit di 3-mercaptopiruvato sulfurtransferasi","MCDU","Sindrome di Ampola"],"definition":"È una malattia molto rara del ciclo della metionina e del metabolismo degli aminoacidi sulfurei, caratterizzata da un aumento del disolfuro della beta-mercaptolattato-cisteina nelle urine (secondario a un deficit di mercaptopiruvato solfotransferasi negli eritrociti), che comporta una positività al test del nitroprussiato di cianuro. Può associarsi a disabilità intellettiva, dislocazione congenita del cristallino ed anomalie comportamentali; tuttavia il rapporto causa-effetto non è ancora noto. Non sono stati descritti nuovi casi dopo il 1981."},"nl":{"name":"Bèta-mercaptolactaat-cysteïne-disulfidurie","synonyms":["3-mercaptopyruvaat-sulfurtransferasedeficiëntie","MCDU","Syndroom van Ampola"],"definition":"Een uiterst zeldzame stoornis van de methioninecyclus en het metabolisme van zwavelhoudende aminozuren, gekarakteriseerd door een verhoogde excretie van bèta-mercaptolactaat-cysteïnedisulfide in de urine (als gevolg van deficiëntie van de activiteit van mercaptopyruvaat-sulfurtransferase in erytrocyten), wat leidt tot een positieve cyanide-nitroprusside test. Er werd associatie gerapporteerd met intellectuele beperking, congenitale lensdislocatie, en gedragsafwijkingen, maar het oorzakelijk verband dient echter nog bepaald te worden. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Disulfiduria por beta-mercaptolactato cistéina"},"pl":{"name":"Encefalopatia spowodowana disulfidurią merkaptomleczano-cysteinową","synonyms":["Zespół Ampola"]},"cs":{"name":"Encefalopatie způsobená beta-merkaptolaktát-cysteinovou disulfidurií","synonyms":["Ampolové syndrom"]},"uk":{"name":"Бета-меркаптолактатна цистеїнова дисульфідурія","synonyms":["Дефіцит 3-меркаптопіруватсульфурттрансферази","Синдром Ампола","MCDU"],"definition":"An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981."},"zh":{"name":"β-巯基乳酸半胱氨酸二硫尿症","synonyms":["3-巯基丙酮酸硫酸转移酶缺乏症"]},"tr":{"name":"Beta-merkaptolaktat sistein disülfürüri","synonyms":["MCDU","Ampola sendromu","3-merkaptopiruvat sülfürtransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"249650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","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":"0009585","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796055","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"654","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":447874,"name":"Biological anomaly without phenotypic characterization","classifications":[156]},{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"4973015[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4973015[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100720","label":"Hypoplasia of the ear cartilage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}