{"orpha":289916,"name":"Vitamin B12-unresponsive methylmalonic acidemia type mut0","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Complete deficiency of methylmalonyl-CoA mutase","Vitamin B12-unresponsive methylmalonic aciduria type mut0"],"definition":"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289916/","orphanet_url":"https://www.orpha.net/en/disease/detail/289916","names":{"fr":{"name":"Acidémie méthylmalonique résistante à la vitamine B12 type mut0","synonyms":["Acidurie méthylmalonique résistante à la vitamine B12 type mut0","Déficit complet en méthymalonyl-CoA mutase"],"definition":"L'acidémie méthylmalonique résistante à la vitamine B12 type mut0 est une erreur métabolique innée caractérisée par des comas céto-acidosiques récurrents et des vomissements passagers, une déshydratation, une hypotonie et un déficit intellectuel, qui ne répond pas à l'administration de vitamine B12."},"de":{"name":"Methylmalonazidämie, Vitamin B12-resistente, Typ mut0","synonyms":["Methylmalonazidurie, Vitamin B12-unabhängige, Typ mut 0","Methylmalonyl-CoA-Mutase-Mangel, kompletter"],"definition":"Die Vitamin B12-resistente Methylmalonazidämie Typ mut0 ist eine erbliche Stoffwechselstörung und gekennzeichnet durch rezidivierendes ketoazidotisches Koma, durch Episoden mit Erbrechen, Dehydratation, Muskelhypotonie und durch geistige Behinderung. Diese Symptome sprechen auf die Gabe von Vitamin B12 nicht an."},"es":{"name":"Acidemia metilmalónica resistente a la vitamina B12 tipo mut 0","synonyms":["Aciduria metilmalónica resistente a la vitamina B12 tipo mut 0","Deficiencia completa de metilmalonil-CoA mutasa"],"definition":"La acidemia metilmalónica resistente a vitamina B12 tipo mut0 es un error innato del metabolismo que se caracteriza por comas cetoacidóticos recurrentes o vómitos transitorios, deshidratación, hipotonía y déficit intelectual, y que no responde a la administración de vitamina B12."},"it":{"name":"Acidemia metilmalonica refrattaria alla vitamina B12, tipo mut0","synonyms":["Aciduria metilmalonica refrattaria alla vitamina B12, tipo mut0","Deficit completo di metilmalonil-CoA mutasi"],"definition":"L'acidemia metilmalonica refrattaria alla vitamina B12 tipo mut0 è un difetto congenito del metabolismo, caratterizzato da episodi ricorrenti di coma chetoacidosico o vomito transitorio, disidratazione, ipotonia e deficit cognitivo. La malattia non risponde alla somministrazione di vitamina B12."},"nl":{"name":"Vitamine B12-resistente methylmalonacidemie, type mut0","synonyms":["Vitamine B12-resistente methylmalonacidurie type mut0","Vitamine B12-resistente methylmalonzuuracidemie, type mut0","Vitamine B12-resistente methylmalonzuuracidurie, type mut0","Volledige deficiëntie van methylmalonyl-CoA-mutase"],"definition":"Een aangeboren defect van stofwisseling, gekenmerkt door recidiverende ketoacidotische coma's of voorbijgaand braken, dehydratie, hypotonie, en intellectuele achterstand, dat niet reageert op toediening van vitamine B12."},"pt":{"name":"Acidemia metilmalónica refratária à vitamina B12 tipo mut0","synonyms":["Acidemia metilmalónica refratária à vitamina B12 tipo mut 0","Acidúria metilmalónica refratária à vitamina B12 tipo mut 0","Deficiência completa de metilmalonil-CoA epimerase","Deficiência completa de metilmalonil-CoA mutase","Deficiência completa de metilmalonil-CoA racemase"]},"pl":{"name":"Kwasica metylomalonowa typu mut0 niewrażliwa na witaminę B12","synonyms":["Acyduria metylomalonowa typu mut0 niewrażliwa na witaminę B12","Całkowity Niedobór mutazy metylomalonylo-CoA"]},"cs":{"name":"Methylmalonová acidemie, typ mut0, non-responzivní na vitamin B12","synonyms":["Úplný deficit methylmalonyl-CoA mutázy"]},"uk":{"name":"Метилмалонова ацидемія, не чутлива до вітаміну В12, тип mut0","synonyms":["Повна недостатність метилмалоніл-КоА мутази","Метилмалонова ацидурія, що не реагує на вітамін В12, тип мут0"],"definition":"Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12."},"zh":{"name":"维生素B12-无反应性甲基丙二酸血症mut0型","synonyms":["维生素B12-无反应性甲基丙二酸血症mut0型"],"definition":"mut0型维生素B12无反应性甲基丙二酸血症是一种先天性代谢异常，其特征是反复酮症酸中毒昏迷或短暂呕吐、脱水、肌张力低下和智力缺陷，对维生素B12治疗无反应。"},"tr":{"name":"B12 vitaminine-yanıtsız metilmalonik asidemi tipi mut0","synonyms":["Metilmalonil-KoA mutaz tam eksikliği","B12 vitamini-tepkisiz metilmalonik asidüri tip mut0"]}},"xrefs":[{"source":"OMIM","code":"251000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1741194419"},{"source":"MONDO","code":"0017360","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":27,"name":"Vitamin B12-unresponsive methylmalonic acidemia","classifications":[150,156,181,188,233]}],"children":[],"genes":[{"symbol":"MMUT","name":"methylmalonyl-CoA mutase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301409[PMID]","hgnc":"7526","ensembl":"ENSG00000146085","omim":"609058","loci":["6p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001259","label":"Coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null}]}}