{"orpha":293355,"name":"Methylmalonic acidemia without homocystinuria","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Methylmalonic aciduria without homocystinuria"],"definition":"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293355/","orphanet_url":"https://www.orpha.net/en/disease/detail/293355","names":{"fr":{"name":"Acidémie méthylmalonique sans homocystinurie","synonyms":["Acidurie méthylmalonique sans homocystinurie"],"definition":"L'acidémie méthylmalonique est une erreur innée du métabolisme de la vitamine B12 caractérisée par des troubles gastro-intestinaux et neurométaboliques résultant dans la diminution de la fonction de l'enzyme mitochondriale méthylmalonyl-CoA mutase."},"de":{"name":"Methylmalonazidämie ohne Homocystinurie","synonyms":["Methylmalonazidurie ohne Homocystinurie"],"definition":"Die Methylmalonazidämie ist eine angeborene Störung im Vitamin B12-Stoffwechsel und gekennzeichnet durch gastrointestinale und neurometabolische Symptome als Folge einer verminderten Aktivität des mitochondrialen Enzyms Methylmalonyl-CoA-Mutase."},"es":{"name":"Acidemia metilmalónica sin homocistinuria","synonyms":["Aciduria metilmalónica sin homocistinuria"],"definition":"La acidemia metilmalónica es un error congénito del metabolismo de la vitamina B12, caracterizado por manifestaciones gastrointestinales y neurometabólicas resultantes de una disminución de la función de la enzima mitocondrial metilmalonil-CoA mutasa."},"it":{"name":"Acidemia metilmalonica","synonyms":["Acidemia metilmalonica senza omocistinuria","Aciduria metilmalonica","Aciduria metilmalonica senza omocistinuria"],"definition":"L'acidemia metilmalonica è un difetto congenito del metabolismo della vitamina B12, caratterizzato da segni gastrointestinali e neurometabolici che esitano nell'ipofunzione dell'enzima mitocondriale metilmalonil-CoA mutasi."},"nl":{"name":"Methylmalonacidurie zonder homocystinurie","synonyms":["Methylmalonacidemie zonder homocystinurie","Methylmalonzuuracidemie zonder homocystinurie","Methylmalonzuuracidurie zonder homocystinurie"],"definition":"Methylmalonzuuracidurie is een aangeboren afwijking in het vitamine B12-metabolisme die zich kenmerkt door gastro-intestinale en neurometabole manifestaties als gevolg van een verminderd functioneren van het mitochondriaal enzym methylmalonyl-CoA-mutase."},"pt":{"name":"Acidemia metilmalónica","synonyms":["Acidemia metilmalónica sem homocistinúria","Acidúria metilmalónica","Acidúria metilmalónica sem homocistinúria"],"definition":"A acidemia metilmalónica é uma doença hereditária do metabolismo da vitamina B12 caracterizada por manifestações gastrointestinais e neurometabólicas resultantes da diminuição da função da enzima mitocondrial metilmalonil-CoA mutase."},"pl":{"name":"Kwasica metylomalonowa bez homocystynurii","synonyms":["Acyduria metylomalonowa bez homocystynurii"]},"cs":{"name":"Methylmalonová acidemie bez homocystinurie","synonyms":["Methylmalonová acidurie bez homocystinurie"]},"uk":{"name":"Метилмалонової ацидемії без гомоцистинурії","synonyms":["Метилмалонова ацидурія без гомоцистинурії"],"definition":"Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase."},"zh":{"name":"不伴同型半胱氨酸尿症的甲基丙二酸血症","synonyms":["甲基丙二酸尿症不伴高胱氨酸尿症"],"definition":"甲基丙二酸血症是一种先天性维生素B12代谢异常，其特征是由于线粒体酶甲基丙二酰辅酶A变位酶功能下降引起的胃肠道和神经代谢表现。"},"tr":{"name":"Homosistinüri ile seyretmeyen metilmalonik asidemi","synonyms":["Homosistinüri olmaksızın metilmalonik asidüri"]}},"xrefs":[{"source":"MONDO","code":"17390","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848400","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","classifications":[150,156]}],"children":[{"orpha":308425,"name":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","type":"Disease"},{"orpha":28,"name":"Vitamin B12-responsive methylmalonic acidemia","type":"Disease"},{"orpha":27,"name":"Vitamin B12-unresponsive methylmalonic acidemia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0555,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":null}