{"orpha":79312,"name":"Vitamin B12-unresponsive methylmalonic acidemia type mut-","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Partial deficiency of methylmalonyl-CoA mutase","Vitamin B12-unresponsive methylmalonic aciduria type mut-"],"definition":"Vitamin B12-unresponsive methylmalonic acidemia type mut- 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-79312/","orphanet_url":"https://www.orpha.net/en/disease/detail/79312","names":{"fr":{"name":"Acidémie méthylmalonique isolée résistante à la vitamine B12 type mut-","synonyms":["Acidurie méthylmalonique résistante à la vitamine B12 type mut-","Déficit partiel en méthylmalonyl-CoA mutase"],"definition":"L'acidémie méthylmalonique isolée résistante à la vitamine B12 type mut- est une erreur métabolique innée caractérisée par des comas céto-acidosiques récurrents ou 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 mut-","synonyms":["Methylmalonazidurie, Vitamin B12-unabhängige, Typ mut-","Methylmalonyl-CoA-Mutase, partieller Mangel"],"definition":"Die Vitamin B12-resistente Methylmalonazidämie Typ mut- 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-","synonyms":["Aciduria metilmalónica resistente a la vitamina B12 tipo mut-","Deficiencia parcial de metilmalonil-CoA mutasa"],"definition":"La acidemia metilmalónica resistente a vitamina B12 tipo mut- 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 resistente alla vitamina B12, tipo mut-","synonyms":["Aciduria metilmalonica resistente alla vitamina B12, tipo mut-","Deficit parziale di metilmalonil-CoA mutasi"],"definition":"L'acidemia metilmalonica refrattaria alla vitamina B12 tipo mut- 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 mut-","synonyms":["Partiële deficiëntie van methylmalonyl-CoA-mutase","Vitamine B12-resistente methylmalonacidurie type mut-","Vitamine B12-resistente methylmalonzuuracidemie type mut-","Vitamine B12-resistente methylmalonzuuracidurie type mut-"],"definition":"Een aangeboren defect van stofwisseling, gekenmerkt door recidiverende ketoacidotische coma of transiënt braken, dehydratie, hypotonie en intellectuele achterstand, en geen respons op toediening van vitamine B12."},"pt":{"name":"Acidemia metilmalónica sensível à vitamina B12 tipo mut-"},"pl":{"name":"Kwasica metylomalonowa nie reagująca na witaminę B12 typu mut-","synonyms":["Acyduria metylomalonowa nie reagująca na witaminę B12 typu mut-","Częściowy Niedobór mutazy metylomalonylo-CoA"]},"cs":{"name":"Methylmalonová acidémie nonresponsivní na vitamin B12, typ mut-","synonyms":["Parciální deficit methylmalonyl-CoA-mutázy","Methylmalonová acidurie nonresponsivní na vitamin B12, typ mut-"]},"uk":{"name":"Метилмалоновий ацидоз, що не чутливий до вітаміну В12, тип mut-","synonyms":["Частковий дефіцит метилмалоніл-КоА мутази","Метилмалонова ацидурія, що не реагує на вітамін В12, тип mut-"],"definition":"Vitamin B12-unresponsive methylmalonic acidemia type mut- 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变异型","synonyms":["维生素B12 -无反应性甲基丙二酸尿变异型"]},"tr":{"name":"B12 vitaminine-tepkisiz metilmalonik asidemi tipi mut-","synonyms":["Metilmalonil-CoA mutazının kısmi eksikliği","B12 vitamini-yanıtsız metilmalonik asidüri tipi mut-"]}},"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":"1699109188"},{"source":"MONDO","code":"0019267","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342719","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":null,"hgnc":"7526","ensembl":"ENSG00000146085","omim":"609058","loci":["6p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":450.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","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:0002240","label":"Hepatomegaly","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:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}