{"orpha":5,"name":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LCHAD deficiency","LCHADD","Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency"],"definition":"A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-5/","orphanet_url":"https://www.orpha.net/en/disease/detail/5","names":{"fr":{"name":"Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à chaîne longue","synonyms":["Déficit en 3-hydroxyacyl-coenzyme A déshydrogénase des acides gras à chaîne longue","Déficit en LCHAD","LCHADD"],"definition":"Le déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à chaîne longue (DLCHAD) est un trouble mitochondrial de l'oxydation des acides gras à chaine longue caractérisé chez la plupart des patients par la survenue dans la petite enfance/en début d'enfance d'une hypoglycémie hypocétosique, d'une acidose métabolique, d'une hépatopathie, d'une hypotonie et souvent d'une atteinte cardiaque incluant des arythmies et/ou une cardiomyopathie."},"de":{"name":"Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel","synonyms":["LCHAD-Mangel","LCHADD","Langketten-3-Hydroxyacyl-Coenzym A-Dehydrogenase-Mangel"],"definition":"Der Langketten-3-Hydroxyacyl-CoA-Dehydrogenase(LCHAD)-Mangel (LCHADM) ist eine angeborene Störung der mitochondrialen Oxidation der langkettigen Fettsäuren. Die Krankheit setzt bei den meisten Patienten im Säuglings- bis frühen Kindesalter ein, mit hypoketotischer Hypoglykämie, metabolischer Azidose, Leberfunktionsstörung, Muskelhypotonie und häufig auch mit kardialer Beteiligung (Arrhythmien und/oder Kardiomyopathie)."},"es":{"name":"Deficiencia de 3-hidroxiacil-CoA deshidrogenasa de cadena larga","synonyms":["Deficiencia de 3-hidroxiacil-coenzima A deshidrogenasa de cadena larga","Deficiencia de LCHAD","LCHADD"],"definition":"Es un trastorno mitocondrial de la oxidación de ácidos grasos de cadena larga que se caracteriza, en la mayoría de casos, por la aparición en la primera infancia o en la niñez de hipoglucemia hipocetósica, acidosis metabólica, hepatopatía, hipotonía y, con frecuencia, afectación cardiaca con arritmias, miocardiopatía o ambas cosas."},"it":{"name":"Deficit di 3-idrossiacil-CoA deidrogenasi a catena lunga","synonyms":["Deficit di LCHAD","LCHADD"],"definition":"Il deficit di 3-idrossiacil-CoA deidrogenasi a catena lunga (LCHADD) è un difetto mitocondriale dell'ossidazione degli acidi grassi a catena lunga caratterizzato, nella maggior parte dei pazienti, dalla comparsa, nel periodo neonatale/prima infanzia, di ipoglicemia ipochetotica, acidosi metabolica, epatopatia, ipotonia e frequente coinvolgimento cardiaco con aritmie e/o cardiomiopatia."},"nl":{"name":"Lange keten 3-hydroxyacyl-CoA-dehydrogenasedeficiëntie","synonyms":["LCHAD-deficiëntie","LCHADD","Lange keten 3-hydroxyacyl-co-enzym A-dehydrogenasedeficiëntie"],"definition":"Een mitochondriale stoornis van de oxidatie van lange keten vetzuren, bij de meeste patiënten gekarakteriseerd door aanvang in de zuigelingentijd/vroege kindertijd met hypoketotische hypoglycemie, metabole acidose, leverziekte, hypotonie en vaak cardiale betrokkenheid met aritmieën en/of cardiomyopathie."},"pt":{"name":"Deficiência de 3-hidroxiacil-CoA desidrogenase de cadeias longas","synonyms":["Deficiência de LCHAD"],"definition":"Uma doença mitocondrial da oxidação dos ácidos gordos de cadeia longa, caracterizada na maioria dos doentes pelo início na infância/primeira infância de hipoglicemia hipocetótica, acidose metabólica, doença hepática, hipotonia e, frequentemente, envolvimento cardíaco com arritmias e/ou cardiomiopatia."},"pl":{"name":"Niedobór dehydrogenazy długich łańcuchów 3-hydroksyacetylo-CoA","synonyms":["LCHADD","Niedobór LCHAD","Niedobór dehydrogenazy długich łańcuchów 3-hydroksyacetylo-koenzymu A"]},"cs":{"name":"Deficit dehydrogenázy 3-hydroxyacyl-CoA s dlouhým řetězcem","synonyms":["Deficit LCHAD","LCHADD"]},"uk":{"name":"Дефіцит довголанцюгової 3-гідроксиацил-КоА-дегідрогенази","synonyms":["Дефіцит LCHAD","LCHADD","Дефіцит довголанцюгового 3-гідроксиацил-коензиму А дегідрогенази"],"definition":"A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy."},"zh":{"name":"长链3-羟基乙酰基-CoA脱氢酶缺乏","synonyms":["长链3-羟基乙酰基-CoA脱氢酶缺乏"]},"tr":{"name":"Uzun zincirli 3-hidroksiaçil-KoA dehidrojenaz eksikliği","synonyms":["LCHADD","LCHAD eksikliği","Uzun zincirli 3-hidroksiasil-koenzim A dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"609016","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":"760613381"},{"source":"MONDO","code":"0012173","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711645","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072653","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309127,"name":"3-hydroxyacyl-CoA dehydrogenase deficiency","classifications":[150,156]},{"orpha":217591,"name":"Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"HADHA","name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4801","ensembl":"ENSG00000084754","omim":"600890","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Australia","status":"Validated","source":"20373143[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"United States","status":"Validated","source":"20373143[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Germany","status":"Validated","source":"15896654[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Sweden","status":"Validated","source":"7564259[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.84,"area":"Poland","status":"Validated","source":"20814823[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.09,"area":"Estonia","status":"Validated","source":"23430857[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.24,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-24","source":"18162058[PMID]_11773547[PMID]","terms":[{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000532","label":"Chorioretinal abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030856","label":"Posterior staphyloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}