{"orpha":42,"name":"Medium chain acyl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACADM deficiency","Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency","MCAD deficiency","MCADD","Medium chain acyl-coenzyme A dehydrogenase deficiency"],"definition":"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-42/","orphanet_url":"https://www.orpha.net/en/disease/detail/42","names":{"fr":{"name":"Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne","synonyms":["Déficit en MCAD","Déficit en acyl-coenzymeA déshydrogénase des acides gras à chaîne moyenne","Déficit en carnitine par déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne","MCADD"],"definition":"Le déficit en en acyl-CoA déshydrogénase des acides gras à chaîne moyenne (MCAD) est une maladie héréditaire de l'oxydation mitochondriale des acides gras à chaîne moyenne caractérisée par des crises métaboliques rapidement progressives, présentant souvent une hypoglycémie hypocétosique, une léthargie, des vomissements, des crises d'épilepsie et un coma pouvant être fatal en l'absence d'intervention médicale d'urgence."},"de":{"name":"Mittelketten-Acyl-CoA-Dehydrogenase-Mangel","synonyms":["ACADM-Mangel","MCAD-Mangel","MCADD","Sekundärer Carnitin-Mangel durch Mittelketten-Acyl-CoA-Dehydrogenase-Mangel"],"definition":"Der Mittelketten-Acyl-CoA-Dehydrogenase (MCAD)-Mangel (MCADM) ist ein angeborener Stoffwechseldefekt der mitochondrialen Fettsäureoxidation. Kennzeichnend sind schnell progrediente Stoffwechselkrisen mit hypoketotischer Hypoglykämie, Lethargie, Erbrechen, Krampfanfällen und Koma, die ohne notfallmedizinische Intervention einen letalen Verlauf nehmen können."},"es":{"name":"Deficiencia de acil-CoA deshidrogenasa de cadena media","synonyms":["Deficiencia de ACADM","Deficiencia de MCAD","Deficiencia de acil-coenzima A deshidrogenasa de cadena media","Deficiencia de carnitina secundaria a una deficiencia de acil-CoA deshidrogenasa de cadena media","MCADD"],"definition":"La deficiencia de acil CoA-deshidrogenasa de cadena media (deficiencia de MCAD o MCADD) es un trastorno congénito de la oxidación mitocondrial de los ácidos grasos caracterizada por una crisis metabólica de evolución rápida, y a menudo se presenta como hipoglucemia hipocetósica, letargo, vómitos, convulsiones y coma, y puede resultar mortal en ausencia de una intervención médica urgente."},"it":{"name":"Deficit di acil-CoA deidrogenasi a catena media","synonyms":["Deficit di ACADM","Deficit di MCAD","Deficit di carnitina secondario a deficit di acil-CoA deidrogenasi a catena media","MCADD"],"definition":"Il deficit di acil-CoA deidrogenasi a catena media (MCADD) è un difetto congenito dell'ossidazione degli acidi grassi nei mitocondri, caratterizzato da crisi metaboliche a progressione rapida, che si presentano spesso con ipoglicemia ipochetotica, letargia, vomito, convulsioni e coma; le crisi possono essere letali in assenza di un intervento medico di emergenza."},"nl":{"name":"Middellange keten acyl-CoA-dehydrogenasedeficiëntie","synonyms":["Carnitinedeficiëntie secundair aan middellange keten acyl-CoA-dehydrogenasedeficiëntie","MCAD-deficiëntie","MCADD","Middellange keten acyl-co-enzym A-dehydrogenasedeficiëntie","ACADM-deficiëntie"],"definition":"Middellange keten acyl-CoA-dehydrogenase (MCAD)-deficiëntie (MCADD) is een aangeboren afwijking van mitochondriale vetzuuroxidatie gekenmerkt door een snel progressieve metabole crisis, die zich vaak presenteert met hypoketotische hypoglycemie, lethargie, braken, insulten en coma, die fataal kunnen zijn in afwezigheid van dringende medische interventie."},"pt":{"name":"Deficiência de acil-CoA desidrogenase de cadeias médias","synonyms":["Deficiência de MCAD"],"definition":"A deficiência de acil-CoA desidrogenase de cadeia média (MCADD) é um erro inato do metabolismo da oxidação mitocondrial dos ácidos gordos, caracterizado por uma crise metabólica rapidamente progressiva, que se manifesta frequentemente como hipoglicemia hipocetótica, letargia, vómitos, convulsões e coma, podendo ser fatal na ausência de intervenção médica de emergência."},"pl":{"name":"Niedobór dehydrogenazy średnich łańcuchów acetylo-CoA","synonyms":["MCADD","Niedobór MCAD","Niedobór ACADM","Niedobór dehydrogenazy średnich łańcuchów acetylo-koenzymu A","Niedobór karnityny wtórny do niedoboru dehydrogenazy średnich łańcuchów acetylo-CoA"]},"cs":{"name":"Deficit dehydrogenázy acyl-CoA se středně dlouhým řetězcem","synonyms":["Deficit ACADM","Sekundární deficit karnitinu zpusobený deficitem dehydrogenázy acyl-CoA se stredne dlouhým retezcem","Deficit MCAD","MCADD","Sekundární deficit karnitinu způsobený deficitem dehydrogenázy acyl-CoA se středně dlouhým řetězcem"]},"uk":{"name":"Дефіцит ацил-КоА-дегідрогенази середнього ланцюга","synonyms":["Дефіцит ACADM","Дефіцит карнітину внаслідок дефіциту ацил-КоА-дегідрогенази середнього ланцюга","Дефіцит MCAD","MCADD","Дефіцит ацил-коферменту А дегідрогенази середнього ланцюга"],"definition":"Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention."},"zh":{"name":"中链酰基辅酶A脱氢酶缺乏","synonyms":["中链酰基辅酶a脱氢酶缺乏继发的肉碱缺乏"]},"tr":{"name":"Orta zincirli açil-CoA dehidrojenaz eksikliği","synonyms":["MCADD","MCAD eksikliği","ACADM eksikliği","Orta zincirli açil-koenzim A dehidrojenaz eksikliği","Orta zincirli açil-CoA dehidrogenaz eksikliğine sekonder karnitin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"201450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"627734797"},{"source":"MONDO","code":"0008721","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536038","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220710","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"540","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072654","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309120,"name":"Acyl-CoA dehydrogenase deficiency","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ACADM","name":"acyl-CoA dehydrogenase medium chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301597[PMID]","hgnc":"89","ensembl":"ENSG00000117054","omim":"607008","loci":["1p31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Europe","status":"Validated","source":"Haute Autorité de Santé 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.1,"area":"Germany","status":"Not yet validated","source":"11388605[PMID]_15832312[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.25,"area":"United Kingdom","status":"Not yet validated","source":"22166308[PMID]_9797590[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.5,"area":"Portugal","status":"Validated","source":"23842438[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Spain","status":"Not yet validated","source":"23842438[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.49,"area":"Netherlands","status":"Validated","source":"22630369[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Canada","status":"Validated","source":"23543005[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.26,"area":"Australia","status":"Validated","source":"19620191[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.96,"area":"Japan","status":"Validated","source":"12127323[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Taiwan, Province of China","status":"Validated","source":"23700290[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.1,"area":"Denmark","status":"Validated","source":"22542437[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.3,"area":"Greece","status":"Validated","source":"22683754[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.85,"area":"United States","status":"Not yet validated","source":"12142359[PMID]_16617240[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.85,"area":"Worldwide","status":"Validated","source":"ORPHANET_16763904[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.02,"area":"Austria","status":"Validated","source":"20938748[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.35,"area":"Italy","status":"Validated","source":"24294134[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-06","source":"27536022[PMID]_28927828[PMID]_29350094[PMID]_31033143[PMID]","terms":[{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011936","label":"Decreased plasma total carnitine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003215","label":"Dicarboxylic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030199","label":"Fatigable weakness of neck muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","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:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005684","label":"Distal arthrogryposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040155","label":"Elevated urinary 3-hydroxybutyric acid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}