{"orpha":28,"name":"Vitamin B12-responsive methylmalonic acidemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adenosylcobalamin deficiency","Vitamin B12-responsive methylmalonic aciduria"],"definition":"An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-28/","orphanet_url":"https://www.orpha.net/en/disease/detail/28","names":{"fr":{"name":"Acidémie méthylmalonique sensible à la vitamine B12","synonyms":["Acidurie méthylmalonique sensible à la vitamine B12","Déficit en adénosylcobalamine"],"definition":"L'acidémie méthylmalonique sensible à la vitamine B12 (AMS) est une erreur innée du métabolisme de la vitamine B12 (cobalamine) caractérisée par des comas acidocétosiques fréquents et des accès de vomissements, une déshydratation, une hypotonie et un déficit intellectuel, elle répond à la vitamine B12. Elle se divise en trois types: <i>cblA, cblB</i> et <i>cblD</i>-variante 2 (<i>cblD</i>v2)."},"de":{"name":"Methylmalonazidämie, Vitamin B12-sensible","synonyms":["Methylmalonazidurie, Vitamin B12-abhängige"],"definition":"Die Vitamin B12-sensible Methylmalonazidämie (MA) ist eine angeborene Störung im Stoffwechsel des Vitamin B12 (Cobalamin) und gekennzeichnet durch rezidivierendes ketoazidotisches Koma oder passageres Erbrechen, Dehydratation, Muskelhypotonie und intellektuelles Defizit. Die Symptome sprechen auf die Gabe von Vitamin B12 an. Es existieren drei Typen: <I>cblA</I>, <I>cblB</I> und <I>cblD</I>-variant 2 (<I>cblDv2</I>)."},"es":{"name":"Acidemia metilmalónica sensible a la vitamina B12","synonyms":["Aciduria metilmalónica sensible a la vitamina B12","Deficiencia de adenosilcobalamina"],"definition":"Es un error congénito del metabolismo de la vitamina B12 (cobalamina) caracterizado por comas cetoacidóticos recurrentes o vómitos transitorios, deshidratación, hipotonía, y discapacidad intelectual. Responde a la vitamina B12. Existen 3 tipos: <i>cblA, cblB</i> and <i>cblD</i>-variante 2 (<i>cblD</i>v2)."},"it":{"name":"Acidemia metilmalonica sensibile alla vitamina B12","synonyms":["Aciduria metilmalonica sensibile alla vitamina B12"],"definition":"L'acidemia metilmalonica (MA) sensibile alla vitamina B12 è un difetto congenito del metabolismo della vitamina B12 (cobalamina) con coma chetoacidosico o vomito transitorio, disidratazione, ipotonia e deficit cognitivo. Risponde alla vitamina B2. Sono noti 3 tipi: <i>cblA, cblB</i> e <i>cblD</i>-variante 2 (<i>cblD</i>v2)."},"nl":{"name":"Vitamine B12-responsieve methylmalonacidemie","synonyms":["Adenosylcobalaminedeficiëntie","Vitamine B12-responsieve methylmalonacidurie","Vitamine B12-responsieve methylmalonzuuracidemie","Vitamine B12-responsieve methylmalonzuuracidurie"],"definition":"Een aangeboren afwijking van het vitamine B12 (cobalamine)-metabolisme die gekarakteriseerd wordt door recurrente ketoacidotische coma's of transiënt braken, dehydratie, hypotonie en intellectuele achterstand, en die reageert op vitamine B12. Er zijn drie types: <i>cblA, cblB</i> en <i>cblD</i>-variant 2 (<i>cblD</i>v2)."},"pt":{"name":"Acidemia metilmalónica sensível à vitamina B12","synonyms":["Acidúria metilmalónica sensível à vitamina B12","Deficiência de adenosilcobalamina"],"definition":"A acidemia metilmalónica responsiva à Vitamina B12 (MA) é uma doença hereditária do metabolismo da vitamina B12 (cobalamina) caracterizada por coma ceto-acidósico recorrente ou vómitos transitórios, desidratação, hipotonia e défice intelectual, que respondem à administração de vitamina B12. Existem três tipos: <i> cblA, cblB </ i> e <i> cblD </ i> variante 2 (<i> cblD </ i> v2)."},"pl":{"name":"Kwasica metylomalonowa reagująca na witaminę B12","synonyms":["Acyduria metylomalonowa reagująca na witaminę B12","Adenosylcobalamin deficiency Niedobór adenosylcobalaminy"]},"cs":{"name":"Methylmalonová acidemie odpovídající na vitamin B12","synonyms":["Adenosylkobalaminový deficit","Methylmalonová acidurie odpovídající na vitamin B12"]},"uk":{"name":"Метилмалонова ацидемія, чутлива до вітаміну В12","synonyms":["Дефіцит аденозилкобаламіну","Метилмалонова ацидурія, що реагує на вітамін В12"],"definition":"An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2)."},"zh":{"name":"维生素B12反应性甲基丙二酸血症","synonyms":["维生素B12反应性甲基丙二酸尿症"]},"tr":{"name":"B12 vitaminine duyarlı metilmalonik asidemi","synonyms":["Adenosilkobalamin eksikliği","B12 vitaminine duyarlı metilmalonik asidüri"]}},"xrefs":[{"source":"OMIM","code":"251100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"251110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"277410","qualifier":"BTNT","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":"1135248720"},{"source":"MONDO","code":"0017214","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12623","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79171,"name":"Disorder of cobalamin metabolism and transport","classifications":[150,156]},{"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":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[{"orpha":79310,"name":"Vitamin B12-responsive methylmalonic acidemia type cblA","type":"Clinical subtype"},{"orpha":79311,"name":"Vitamin B12-responsive methylmalonic acidemia type cblB","type":"Clinical subtype"},{"orpha":308442,"name":"Vitamin B12-responsive methylmalonic acidemia, type cblDv2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MMAA","name":"metabolism of cobalamin associated A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"18871","ensembl":"ENSG00000151611","omim":"607481","loci":["4q31.21"],"via":{"orpha":79310,"name":"Vitamin B12-responsive methylmalonic acidemia type cblA"}},{"symbol":"MMAB","name":"metabolism of cobalamin associated B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19331","ensembl":"ENSG00000139428","omim":"607568","loci":["12q24.11"],"via":{"orpha":79311,"name":"Vitamin B12-responsive methylmalonic acidemia type cblB"}},{"symbol":"MMADHC","name":"metabolism of cobalamin associated D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25221","ensembl":"ENSG00000168288","omim":"611935","loci":["2q23.2"],"via":{"orpha":308442,"name":"Vitamin B12-responsive methylmalonic acidemia, type cblDv2"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":192.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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: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:0002240","label":"Hepatomegaly","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:0001987","label":"Hyperammonemia","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:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}