{"orpha":280183,"name":"Methylmalonic aciduria due to transcobalamin receptor defect","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Methylmalonic acidemia, TCb1R type","Methylmalonic acidemia, TCbIR type"],"definition":"Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280183/","orphanet_url":"https://www.orpha.net/en/disease/detail/280183","names":{"fr":{"name":"Acidurie méthylmalonique par déficit en récepteur de la transcobalamine","synonyms":["Acidémie méthylmalonique type TCb1R"],"definition":"Anomalie rare de transport et d'absorption des métabolites caractérisée par une augmentation modérée du taux d'acide méthylmalonique (MMA) présent dans le sang et l'urine en raison d'une diminution de l'absorption cellulaire de la cobalamine résultant d'une altération de la fonction des récepteurs de la transcobalamine. Les patients sont généralement asymptomatiques, mais le dépistage révèle une augmentation des taux de C3-acylcarnitine et d'acide méthylmalonique dans le plasma. Les taux sériques d'homocystéine peuvent varier de normaux à modérément élevés et des cas d'occlusion veineuse rétinienne, entraînant une baisse sévère de vision, ont été rapportés."},"de":{"name":"Methylmalonazidurie durch Transcobalamin-Rezeptor-Defekt","synonyms":["Methylmalonazidurie Typ TCb1R","Methylmalonazidämie Typ TCb1R"]},"es":{"name":"Aciduria metilmalónica por defectos del receptor de la transcobalamina","synonyms":["Acidemia metilmalónica tipo TCb1R","Acidemia metilmalónica tipo TCbIR"],"definition":"Es un trastorno poco frecuente del transporte y absorción de metabolitos. Está caracterizado por un incremento moderado de ácido metilmalónico (MMA) en sangre y orina, debido a la disminución de captación celular de cobalamina, por una pérdida de función del receptor de transcobalamina. Los afectados suelen ser asintomáticos, sin embargo, el procedimiento analítico de cribado revela un aumento de la C3-acilcarnitina y MMA en plasma. Los niveles de homocisteína sérica pueden variar desde normal a moderadamente elevados, y se ha descrito la presencia de patología vascular retiniana oclusiva, que conduce a pérdida visual grave."},"it":{"name":"Aciduria metilmalonica da difetto del recettore della transcobalamina","synonyms":["Acidemia metilmalonica, tipo TCb1R","Acidemia metilmalonica, tipo TCbIR"],"definition":"L'aciduria metilmalonica da difetto del recettore della transcobalamina è una malattia rara dell'assorbimento e del trasporto dei metaboliti, caratterizzata da un aumento moderato dell'acido metilmalonico (MMA) nel sangue e nelle urine, causato da un ridotto assorbimento cellulare della cobalamina, secondario ad una disfunzione del recettore della transcobalamina. Di solito i pazienti sono asintomatici, ma lo screening evidenzia un aumento di acilcarnitina C3 e MMA nel plasma. I livelli di omocisteina nel siero sono normali o lievemente aumentati. Può associarsi all'occlusione delle vene retiniche, con conseguente perdita della vista."},"nl":{"name":"Methylmalonacidurie door defect van transcobalaminereceptor","synonyms":["Methylmalonacidemie, TCb1R-type","Methylmalonacidemie, TCbIR-type","Methylmalonzuuracidemie, TCb1R-type","Methylmalonzuuracidemie, TCbIR-type","Methylmalonzuuracidurie door defect van transcobalaminereceptor"],"definition":"Methylmalonacidurie door een transcobalaminereceptordefect is een zeldzame stoornis van de absorptie en het transport van metabolieten, en wordt gekarakteriseerd door een matige toename van methylmalonzuur (MMA) in het bloed en de urine door een verminderde cellulaire opname van cobalamine als gevolg van een verminderde functie van transcobalaminereceptoren. Patiënten zijn meestal asymptomatisch, maar doorlichting toont echter een toename van C3-acylcarnitine en MMA in het plasma. De gehaltes van homocysteïne in het serum kunnen variëren van normaal tot matig verhoogd, en er werd ook reeds retinale vasculaire occlusie, die leidt tot ernstig visueel functieverlies, gerapporteerd."},"pt":{"name":"Aciduria metilmalónica por deficiência do receptor da transcobalamina","synonyms":["Acidémia metilmalónica, tipo TCb1R","Acidémia metilmalónica, tipo TCbIR"]},"pl":{"name":"Kwasica metylomalonowa z powodu defektu receptora transkobalaminy","synonyms":["Kwasica metylomalonowa, typ TCb1R","Kwasica metylomalonowa, typ TCbIR"],"definition":"*Kwasica metylomalonowa z powodu defektu receptora transkobalaminy jest rzadkim zaburzeniem wchłaniania i transportu metabolitów, które charakteryzuje się umiarkowanym wzrostem stężenia kwasu metylomalonowego (MMA) we krwi i moczu z powodu zmniejszonego wychwytu kobalaminy przez komórki wskutek zaburzonej funkcji receptora transkobalaminy. Pacjenci zwykle nie mają objawów, jednak w badaniach przesiewowych stwierdza się zwiększone stężenie C3-acylokarnityny i MMA w osoczu. Stężenia homocysteiny w surowicy mogą być prawidłowe lub umiarkowanie podwyższone. Opisywano niedrożność naczyń siatkówki, co prowadzi do ciężkiego niedowidzenia."},"cs":{"name":"Methylmalonová acidurie způsobená poruchou v transkobalaminovém receptoru","synonyms":["Methylmalonová acidémie, typ TCb1R","Methylmalonová acidémie, typ TCbIR"]},"uk":{"name":"Метилмалоновий ацидоз внаслідок дефекту транскобаламінових рецепторів","synonyms":["Метилмалонова ацидемія, тип TCb1R","Метилмалонова ацидемія, тип TCbIR"],"definition":"Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported."},"zh":{"name":"钴胺传递蛋白受体缺陷所致甲基丙二酸尿症","synonyms":["TCbIR型甲基丙二酸尿症"],"definition":"由钴转运蛋白受体缺陷引起的甲基丙二酸尿症，是一种罕见的代谢吸收和转运障碍，其特征是由于钴转运蛋白受体功能下降导致钴胺素吸收减少，导致血液和尿液中甲基丙二酸（MMA）适度增加。患者常无症状，但筛查显示血浆C3-酰基肉碱和MMA升高。据报道，血清高半胱氨酸水平可为正常到中度升高，视网膜血管闭塞性疾病可导致严重的视力下降。"},"tr":{"name":"Transkobalamin reseptör bozukluğuna bağlı metilmalonik asidüri","synonyms":["Metilmalonik asidemi, TCb1R tipi","Metilmalonik asidemi, TCbIR tipi"]}},"xrefs":[{"source":"OMIM","code":"613646","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013341","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749905","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]}],"children":[],"genes":[{"symbol":"CD320","name":"CD320 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20524213[PMID]","hgnc":"16692","ensembl":"ENSG00000167775","omim":"606475","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"20524213[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}