{"orpha":308425,"name":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MCEE deficiency","Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency","Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency","Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency"],"definition":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-308425/","orphanet_url":"https://www.orpha.net/en/disease/detail/308425","names":{"fr":{"name":"Acidémie méthylmalonique par déficit en méthylmalonyl-CoA épimérase","synonyms":["Acidurie méthylmalonique par déficit en méthylmalonyl-CoA racémase","Acidurie méthylmalonique par déficit en méthylmalonyl-CoA épimérase","Déficit en MCEE"],"definition":"Une erreur rare et innée du métabolisme caractérisée par une élévation persistante, légère à modérée, du taux d'acide méthylmalonique dans le plasma, l'urine et le liquide céphalorachidien. La présentation clinique peut inclure une décompensation métabolique aigüe avec acidose métabolique (se manifestant par des vomissements, une déshydratation, une confusion, des hallucinations) et des signes neurologiques non spécifiques, mais la condition peut aussi être asymptomatique."},"de":{"name":"Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel","synonyms":["MCEE-Mangel","Methylmalonazidurie durch Methylmalonyl-CoA-Epimerase-Mangel","Methylmalonazidurie durch Methylmalonyl-CoA-Racemerase-Mangel","Methylmalonazidämie durch Methylmalonyl-CoA-Racemerase-Mangel"],"definition":"Methylmalonsäureanämie aufgrund eines Methylmalonyl-CoA-Epimerase-Mangels ist eine seltene angeborene Stoffwechselerkrankung, die durch eine leichte bis mäßige, anhaltende Erhöhung der Methylmalonsäure im Plasma, Urin und Liquor gekennzeichnet ist. Die klinische Präsentation ist variabel und kann mit einer akuten metabolischen Dekompensation mit metabolischer Azidose (mit Erbrechen, Dehydratation, Verwirrung, Halluzinationen) einhergehen, unspezifische neurologische Symptome umfassen oder auch asymptomatisch sein."},"es":{"name":"Acidemia metilmalónica por deficiencia de metilmalonil-CoA epimerasa","synonyms":["Acidemia metilmalónica por deficiencia de metilmalonil-CoA racemasa","Aciduria metilmalónica por deficiencia de metilmalonil-CoA epimerasa","Aciduria metilmalónica por deficiencia de metilmalonil-CoA racemasa","Deficiencia de MCEE"],"definition":"La acidemia metilmalónica por deficiencia de metilmalonil-CoA epimerasa es un error congénito del metabolismo poco frecuente caracterizado por una elevación persistente, leve o moderada, del ácido metilmalónico en plasma, orina y líquido cefalorraquídeo. La presentación clínica puede incluir descompensación metabólica aguda con acidosis metabólica (vómitos, deshidratación, confusión, alucinaciones) y síntomas neurológicos inespecíficos, aunque puede incluso ser asintomática."},"it":{"name":"Acidemia metilmalonica da deficit di metilmalonil-CoA epimerasi","synonyms":["Acidemia metilamalonica da deficit di metilmalonil-CoA racemasi","Aciduria metilmalonica da deficit di metilmalonil-CoA epimerasi","Aciduria metilmalonica da deficit di metilmalonil-CoA racemasi","Deficit di MCEE"],"definition":"L'acidemia metilmalonica da deficit di metilmalonil-CoA epimerasi è un difetto raro congenito del metabolismo, caratterizzato da un aumento persistente, lieve o moderato, dei livelli di acido metilmalonico nel plasma, nelle urine e nel liquido cerebrospinale. I segni clinici comprendono lo scompenso metabolico acuto con acidosi metabolica (che esordisce con vomito, disidratazione, confusione e allucinazioni) e la presenza di sintomi neurologici aspecifici. I pazienti possono anche essere asintomatici."},"nl":{"name":"Methylmalonacidurie door methylmalonyl-CoA-epimerasedeficiëntie","synonyms":["MCEE-deficiëntie","Methylmalonacidemie door methylmalonyl-CoA-epimerasedeficiëntie","Methylmalonacidemie door methylmalonyl-CoA-racemasedeficiëntie","Methylmalonacidurie door methylmalonyl-CoA-racemasedeficiëntie","Methylmalonzuuracidemie door methylmalonyl-CoA-epimerasedeficiëntie","Methylmalonzuuracidemie door methylmalonyl-CoA-racemasedeficiëntie","Methylmalonzuuracidurie door methylmalonyl-CoA-epimerasedeficiëntie","Methylmalonzuuracidurie door methylmalonyl-CoA-racemasedeficiëntie"],"definition":"Methylmalonacidurie door methylmalonyl-CoA-epimerasedeficiëntie is een zeldzaam aangeboren defect van het metabolisme dat gekarakteriseerd wordt door milde tot matige, aanhoudende verhoging van methylmalonzuur in het plasma, de urine en het hersenvocht. Het klinisch beeld omvat mogelijk acute metabole decompensatie met metabole acidose (die zich voordoet met braken, dehydratie, verwarring, hallucinaties), of niet-specifieke neurologische symptomen, of kan ook asymptomatisch zijn."},"pt":{"name":"Acidemia metilmalónica devido a défice de metilmalomil-CoA epimerase"},"pl":{"name":"Kwasica metylomalonowa z powodu niedoboru epimerazy metylomalonylo-CoA","synonyms":["Acyduria metylomalonowa z powodu niedoboru epimerazy metylomalonylo-CoA","Acyduria metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA","Kwasica metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA","Niedobór MCEE"]},"cs":{"name":"Methylmalonová acidémie způsobená deficitem methylmalonyl-CoA-epimerázy","synonyms":["MCEE deficit","Methylmalonová acidémie způsobená deficitem methylmalonyl-CoA-racemázy","Methylmalonová acidurie způsobená deficitem methylmalonyl-CoA-epimerázy","Methylmalonová acidurie způsobená deficitem methylmalonyl-CoA-racemázy"]},"uk":{"name":"Метилмалонова ацидемія, зумовлена дефіцитом метилмалоніл-КоА епімерази","synonyms":["Дефіцит MCEE","Метилмалонова ацидемія внаслідок дефіциту метилмалоніл-КоА-рацемази","Метилмалонова ацидурія внаслідок дефіциту метилмалоніл-КоА епімерази","Метилмалонова ацидурія внаслідок дефіциту метилмалоніл-КоА-рацемази"],"definition":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic."},"zh":{"name":"甲基丙二酰辅酶A差向异构酶缺乏所致乙基丙二酸血症","synonyms":["甲基丙二酰辅酶A异构酶缺乏所致甲基丙二酸尿症"],"definition":"甲基丙二酰-CoA差向异构酶缺乏症是一种罕见的先天性代谢性疾病，其特征是血浆、尿液和脑脊液中甲基丙二酸轻中度持续升高。临床表现可包括急性代谢失调伴代谢性酸中毒（表现为呕吐、脱水、神志不清、幻觉）、非特异性神经系统症状，也可能无症状。"},"tr":{"name":"Metilmalonil-CoA epimeraz eksikliğine bağlı metilmalonik asidemi","synonyms":["MCEE eksikliği","Metilmalonil-KoA rasemaz eksikliğine bağlı metilmalonik asidemi","Metilmalonil-KoA rasemaz eksikliğine bağlı metilmalonik asidüri","Metilmalonil-KoA epimeraz eksikliğine bağlı metilmalonik asidüri"]}},"xrefs":[{"source":"OMIM","code":"251120","qualifier":"E","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":"1326188987"},{"source":"MONDO","code":"0009615","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707328","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]}],"children":[],"genes":[{"symbol":"MCEE","name":"methylmalonyl-CoA epimerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"16732","ensembl":"ENSG00000124370","omim":"608419","loci":["2p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"27699154[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27699154[PMID]"}],"phenotypes":null}