{"orpha":27,"name":"Vitamin B12-unresponsive methylmalonic acidemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Methylmalonyl-CoA mutase deficiency","Methylmalonyl-Coenzyme A mutase deficiency","Vitamin B12-unresponsive methylmalonic aciduria"],"definition":"Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: <i>mut0</i> and <i>mut-</i>.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-27/","orphanet_url":"https://www.orpha.net/en/disease/detail/27","names":{"fr":{"name":"Acidémie méthylmalonique résistante à la vitamine B12","synonyms":["Acidurie méthylmalonique résistante à la vitamine B12","Déficit en méthylmalonyl-CoA mutase","Déficit en méthylmalonyl-Coenzyme A mutase"],"definition":"L'AMR est une erreur innée de métabolisme de la vitamine B12 (cobalamine) caractérisée par des crises d'acidocétose récurrentes et des accès de vomissements, une déshydratation, une hypotonie et un déficit intellectuel, qui ne répondent pas à l'administration de vitamine B12. Il existe deux types d'acidémie méthylmalonique résistante à la vitamine B12 : <i>mut0</i> et <i>mut-</i>."},"de":{"name":"Methylmalonazidämie, Vitamin B12-resistente","synonyms":["Methylmalonazidurie, Vitamin B12-unabhängige","Methylmalonyl-CoA-Mutase-Mangel","Methylmalonyl-Coenzym A-Mutase-Mangel"],"definition":"Die Vitamin B12-resistente Methylmalonazidämie ist ein angeborener Defekt im Stoffwechsel des Vitamins B12 (Cobalamin) und gekennzeichnet durch rezidivierende ketoazidotische Krisen oder Episoden mit Erbrechen, Dehydratation, Muskelhypotonie und intellektuelles Defizit. Die Symptome sprechen nicht auf die Gabe von Vitamin B12 an. Zwei Typen der Vitamin B 12-resistenten Methylmalonazidämie werden unterschieden: <I>mut0</I> und <I>mut-</I>."},"es":{"name":"Acidemia metilmalónica resistente a la vitamina B12","synonyms":["Aciduria metilmalónica resistente a la vitamina B12","Deficiencia de metilmalonil coenzima A mutasa","Deficiencia de metilmalonil-CoA mutasa"],"definition":"La acidemia metilmalónica resistente a vitamina B12 es un error congénito del metabolismo de la vitamina B12 (cobalamina) caracterizado por crisis cetoacidóticas recurrentes o vómitos transitorios, deshidratación, hipotonía, y déficit intelectual, y que no responde a la vitamina B12. Existen dos tipos de acidemia metilmalónica resistente a vitamina B12: <i>mut0</i> y <i>mut-</i> (consulte estos términos)."},"it":{"name":"Acidemia metilmalonica resistente alla vitamina B12","synonyms":["Aciduria metilmalonica resistente alla vitamina B12"],"definition":"L'acidemia metilmalonica refrattaria alla vitamina B12 è un difetto congenito del metabolismo della vitamina B12 (cobalamina), caratterizzato da ricorrenti crisi chetoacidosiche o vomito transitorio, disidratazione, ipotonia e deficit cognitivo. La malattia non risponde all'assunzione di vitamina B12. Esistono due tipi di acidemia metilmalonica refrattaria alla vitamina B12: <i>mut0</i>e <i>mut-</i> (si vedano questi termini)."},"nl":{"name":"Vitamine B12-resistente methylmalonacidemie","synonyms":["Methylmalonyl-Co-enzym A-mutasedeficiëntie","Methylmalonyl-CoA-mutasedeficiëntie","Vitamine B12-resistente methylmalonacidurie","Vitamine B12-resistente methylmalonzuuracidemie","Vitamine B12-resistente methylmalonzuuracidurie"],"definition":"Vitamine B12-resistente methylmalonacidurie is een aangeboren afwijking van het vitamine B12 (cobalamine)-metabolisme die wordt gekenmerkt door terugkerende ketoacidotische crises of tijdelijk braken, uitdroging, hypotonie en intellectuele tekorten, en die niet reageert op toediening van vitamine B12. Er zijn twee soorten van vitamine B12-resistente methylmalonacidurie: <i>mut0</i> en <i>mut-</i> (zie deze termen)."},"pt":{"name":"Acidemia metilmalónica refratária à vitamina B12","synonyms":["Acidúria metilmalónica refratária à vitamina B12","Deficiência de metilmalonil-coenzima A epimerase","Deficiência de metilmalonil-coenzima A mutase"],"definition":"A acidemia metilmalónica não responsiva à Vitamina B12 é uma doença hereditária do metabolismo da vitamina B12 (cobalamina) caracterizada por crises recorrentes de cetoacidose ou vómitos transitórios, desidratação, hipotonia e défice intelectual, que não respondem à administração de vitamina B12. Existem dois tipos de acidemia metilmalónica não responsiva à vitamina B12: <i> mut0 </ i> e <i> mut-</ i> (ver estes termos)."},"pl":{"name":"Kwasica metylomalonowa niereagująca na witaminę B12","synonyms":["Acyduria metylomalonowa niereagująca na witaminę B12"]},"cs":{"name":"Vitamin B12-neresponzivní metylmalonová acidémie","synonyms":["Vitamin B12-neresponzivní metylmalonová acidurie"]},"uk":{"name":"Метилмалонова ацидемія, не чутлива до вітаміну В12","synonyms":["Дефіцит метилмалоніл-КоА мутази","Дефіцит метилмалоніл-коензиму А мутази","Метилмалоновий ацидоз, що не реагує на вітамін В12"],"definition":"Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: <i>mut0</i> and <i>mut-</i> (see these terms)."},"zh":{"name":"维生素B12无反应性甲基丙二酸血症","synonyms":["维生素B12无反应性甲基丙二酸尿症"]},"tr":{"name":"B12 Vitamini - yanıtsız metilmalonik asidemi","synonyms":["Metilmalonil-CoA mutaz eksikliği","Metilmalonil-Koenzim A mutaz eksikliği","B12 vitamini-yanıtsız metilmalonik asidüri"]}},"xrefs":[{"source":"OMIM","code":"251000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1982871374"},{"source":"MONDO","code":"0009612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537573","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931536","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3586","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":293355,"name":"Methylmalonic acidemia without homocystinuria","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":79312,"name":"Vitamin B12-unresponsive methylmalonic acidemia type mut-","type":"Clinical subtype"},{"orpha":289916,"name":"Vitamin B12-unresponsive methylmalonic acidemia type mut0","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":79312,"name":"Vitamin B12-unresponsive methylmalonic acidemia type mut-"}},{"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"],"via":{"orpha":289916,"name":"Vitamin B12-unresponsive methylmalonic acidemia type mut0"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","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:0001944","label":"Dehydration","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:0002093","label":"Respiratory insufficiency","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:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","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:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","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:0002385","label":"Paraparesis","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:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}