{"orpha":26793,"name":"Very long chain acyl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["VLCAD deficiency","VLCADD"],"definition":"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-26793/","orphanet_url":"https://www.orpha.net/en/disease/detail/26793","names":{"fr":{"name":"Déficit en acyl-CoA déshydrogénase des acides gras à chaîne très longue","synonyms":["Déficit en VLCAD","VLCADD"],"definition":"Le déficit en acyl-CoA déshydrogénase des acides gras à chaîne très longue (DVLCAD) est un trouble héréditaire de l'oxydation mitochondriale des acides gras à chaîne longue avec une présentation variable incluant une cardiomyopathie, une hypoglycémie hypocétosique, une hépatopathie, une intolérance à l'effort et une rhabdomyolyse."},"de":{"name":"Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel","synonyms":["Acyl-CoA-Dehydrogenase-Mangel, sehr langkettige","VLCADD"],"definition":"Der Sehr langkettige Acyl-CoA-Dehydrogenase (VLCAD)-Mangel ist eine vererbte Störung der mitochondrialen Oxidation der sehr langkettigen Fettsäuren. Das klinische Bild ist unterschiedlich, Symptome sind Kardiomyopathie, hypoketotische Hypoglykämie, Leberfunktionsstörung, Belastungsintoleranz und Rhabdomyolyse."},"es":{"name":"Deficiencia de acil-CoA deshidrogenasa de cadena muy larga","synonyms":["Deficiencia de VLCAD","VLCADD"],"definition":"La deficiencia de acil CoA-deshidrogenasa de cadena muy larga (VLCADD) es un trastorno hereditario de la oxidación mitocondrial de ácidos grasos de cadena larga con una presentación variable que incluye: miocardiopatía, hipoglucemia hipocetótica, hepatopatía, intolerancia al ejercicio físico y rabdomiólisis."},"it":{"name":"Deficit di acil-CoA deidrogenasi a catena molto lunga","synonyms":["Deficit di VLCAD","VLCADD"],"definition":"Il deficit di acil-CoA deidrogenasi a catena molto lunga (VLCAD) (VLCADD) è un difetto ereditario dell'ossidazione mitocondriale degli acidi grassi a catena lunga con un quadro variabile, che comprende la cardiomiopatia, l'ipoglicemia ipochetotica, l'epatopatia, l'intolleranza all'esercizio fisico e la rabdomiolisi."},"nl":{"name":"Zeer lange keten acyl-CoA-dehydrogenasedeficiëntie","synonyms":["VLCAD-deficiëntie","VLCADD"],"definition":"Zeer lange keten acylCoA-dehydrogenase (VLCAD)-deficiëntie (VLCADD) is een erfelijke aandoening van de mitochondriale lange keten vetzuuroxidatie met een variabele presentatie, inclusief: cardiomyopathie, hypoketotische hypoglycemie, leverziekte, inspanningsintolerantie en rhabdomyolyse."},"pt":{"name":"Deficiência de acil-CoA desidrogenase de cadeias muito longas","synonyms":["Deficiência de VLCAD"],"definition":"A deficiência de acil-CoA desidrogenase de cadeia muito longa (VLCADD) é uma doença hereditária da oxidação mitocondrial de ácidos gordos de cadeia longa, com apresentação variável, incluindo: cardiomiopatia, hipoglicemia hipocetótica, doença hepática, intolerância ao exercício e rabdomiólise."},"pl":{"name":"Niedobór dehydrogenazy bardzo długiego łańcucha acetylo-CoA","synonyms":["Niedobór VLCAD","VLCADD"]},"cs":{"name":"Deficit acyl-CoA dehydrogenázy s velmi dlouhým řetězcem","synonyms":["Deficit VLCAD","VLCADD"]},"uk":{"name":"Дефіцит ацил-КоА-дегідрогенази з дуже довгим ланцюгом","synonyms":["Дефіцит VLCAD","VLCADD"],"definition":"Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis."},"zh":{"name":"极长链酰基辅酶A脱氢酶缺乏症","synonyms":["VLCAD 缺乏症"]},"tr":{"name":"Çok uzun zincirli açil-CoA dehidrojenaz eksikliği","synonyms":["VLCADD","VLCAD eksikliği"]}},"xrefs":[{"source":"OMIM","code":"201475","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":"907810567"},{"source":"MONDO","code":"0008723","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3887523","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5508","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072656","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":99900,"name":"Long chain acyl-CoA dehydrogenase deficiency","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309120,"name":"Acyl-CoA dehydrogenase deficiency","classifications":[150,156]},{"orpha":217591,"name":"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACADVL","name":"acyl-CoA dehydrogenase very long chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301763[PMID]","hgnc":"92","ensembl":"ENSG00000072778","omim":"609575","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Australia","status":"Validated","source":"16488171[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"United States","status":"Validated","source":"22766612[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Germany","status":"Validated","source":"20547398[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.45,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-07","source":"31031081[PMID]_20301763[PMID]_27246109[PMID]_27209629[PMID]","terms":[{"hpo":"HP:0030781","label":"Increased circulating free fatty acid level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","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:0002876","label":"Episodic tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009045","label":"Exercise-induced rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}