{"orpha":159,"name":"Carnitine-acylcarnitine translocase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CACT deficiency"],"definition":"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-159/","orphanet_url":"https://www.orpha.net/en/disease/detail/159","names":{"fr":{"name":"Déficit en carnitine-acylcarnitine translocase","synonyms":["Déficit en CACT"],"definition":"Le déficit en carnitine-acylcarnitine translocase (CACT) est un trouble héréditaire de l'oxydation des acides gras mettant en jeu le pronostic vital. Il se manifeste généralement au cours de la période néonatale par une hypoglycémie hypocétotique sévère, une hyperammoniémie, une cardiomyopathie et/ou une arythmie, une insuffisance hépatique, une faiblesse des muscles squelettiques et une encéphalopathie."},"de":{"name":"Carnitin-Acylcarnitin-Translokase-Mangel","synonyms":["CACT-Mangel"],"definition":"Der Carnitin-Acylcarnitin-Translokase (CACT)-Mangel ist eine vererbte lebensbedrohliche Störung der Fettsäure-Oxidation. In der Regel wird sie im Neugeborenenalter mit schwerer hypoketotischer Hypoglykämie, Hyperammonämie, Kardiomyopathie und/oder Arrhythmie, Leberfunktionsstörung, Muskelschwäche und Enzephalopathie manifest."},"es":{"name":"Deficiencia de carnitina-acilcarnitina translocasa","synonyms":["Deficiencia de CACT"],"definition":"La deficiencia de carnitina-acilcarnitina-traslocasa (deficiencia en CACT) es un trastorno hereditario y potencialmente mortal de la oxidación de ácidos grasos que normalmente se presenta en el periodo neonatal con hipoglucemia hipocetósica grave, hiperamonemia, miocardiopatía y arritmia, disfunción hepática, debilidad de los músculos esqueléticos y encefalopatía."},"it":{"name":"Deficit di carnitina-acilcarnitina traslocasi","synonyms":["Deficit di CACT"],"definition":"Il deficit di carnitina-acilcarnitina traslocasi (CACT) è un difetto ereditario, potenzialmente letale, dell'ossidazione degli acidi grassi, che di solito esordisce nel periodo neonatale con ipoglicemia ipochetotica grave, iperammoniemia, cardiomiopatia e/o aritmia, disfunzione epatica, debolezza muscolare scheletrica ed encefalopatia."},"nl":{"name":"Deficiëntie van carnitine-acylcarnitine translocase","synonyms":["CACT-deficiëntie"],"definition":"Carnitine-acylcarnitine translocase (CACT)-deficiëntie is een levensbedreigende, erfelijke aandoening van de vetzuuroxidatie die zich meestal in de neonatale periode presenteert met ernstige hypoketotische hypoglycemie, hyperammoniëmie, cardiomyopathie en/of aritmie, leverfunctiestoornissen, spierzwakte en encefalopathie."},"pt":{"name":"Deficiência de carnitina-acilcarnitina translocase","definition":"A deficiência de translocase de carnitina-acilcarnitina (CACT) é uma doença hereditária com risco de vida, que afeta a oxidação dos ácidos gordos e geralmente se manifesta no período neonatal com hipoglicemia hipocetótica grave, hiperamonémia, cardiomiopatia e/ou arritmia, disfunção hepática, fraqueza muscular esquelética e encefalopatia."},"pl":{"name":"Niedobór translokazy karnityno-acylokarnitynowej","synonyms":["Niedobór CACT"]},"cs":{"name":"Deficit karnitinacylkarnitintranslokázy","synonyms":["CACT deficit"]},"uk":{"name":"Дефіцит карнітин-ацилкарнітинової транслокази","synonyms":["Дефіцит CACT"],"definition":"Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy."},"zh":{"name":"肉毒碱-酰肉碱移位酶缺乏症","synonyms":["CACT缺乏症"]},"tr":{"name":"Karnitin-açilkarnitin translokaz eksikliği","synonyms":["CACT eksikliği"]}},"xrefs":[{"source":"OMIM","code":"212138","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"677949122"},{"source":"MONDO","code":"0008918","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562812","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342791","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1123","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078729","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309130,"name":"Disorder of carnitine cycle and carnitine transport","classifications":[150,156]},{"orpha":217591,"name":"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC25A20","name":"solute carrier family 25 member 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1421","ensembl":"ENSG00000178537","omim":"613698","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"24088670[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-23","source":"7350426[PMID]_1598097[PMID]_8450053[PMID]_10577999[PMID]_17578469[PMID]_24088670[PMID]","terms":[{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003215","label":"Dicarboxylic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002882","label":"Sudden episodic apnea","frequency":"Occasional (29-5%)","criteria":null}]}}