{"orpha":26792,"name":"Short chain acyl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACADS deficiency","SCAD deficiency","SCADD"],"definition":"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-26792/","orphanet_url":"https://www.orpha.net/en/disease/detail/26792","names":{"fr":{"name":"Déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte","synonyms":["Déficit en ACADS","Déficit en SCAD","SCADD"],"definition":"Le déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte (DSCAD) est une erreur innée très rare de l'oxydation mitochondriale des acides gras, caractérisée par des manifestations variables allant d'individus asymptomatiques (dans la plupart des cas) à des individus présentant un retard de croissance staturo-pondérale, une hypotonie, des convulsions , un retard développemental et une myopathie progressive."},"de":{"name":"Kurzketten-Acyl-CoA-Dehydrogenase-Mangel","synonyms":["ACADS-Mangel","SCAD-Mangel","SCADD"],"definition":"Der Kurzketten-Acyl-CoA-Dehydrogenase (SCAD)-Mangel ist eine sehr seltene Störung der mitochondrialen Fettsäureoxidation. Die klinische Ausprägung reicht von symptomfreien Individuen (die Mehrzahl) bis zu Patienten mit Gedeihstörung Muskelhypotonie, Krämpfen, Entwicklungsverzögerung und progressiver Myopathie."},"es":{"name":"Deficiencia de acil-CoA deshidrogenasa de cadena corta","synonyms":["Deficiencia de ACADS","Deficiencia de SCAD","SCADD"],"definition":"La deficiencia de acil CoA-deshidrogenasa de cadena corta (deficiencia de SCAD) es un trastorno congénito muy raro de la oxidación de los ácidos grasos en las mitocondrias caracterizado por manifestaciones variables que van desde individuos asintomáticos (en la mayoría de los casos) hasta otros con retraso de crecimiento, hipotonía, convulsiones, retraso en el desarrollo y miopatía progresiva."},"it":{"name":"Deficit di acil-CoA deidrogenasi a catena corta","synonyms":["Deficit di ACADS","Deficit di SCAD","SCADD"],"definition":"Il deficit di acil-CoA deidrogenasi a catena corta (SCAD) è un difetto congenito molto raro dell'ossidazione mitocondriale degli acidi grassi, caratterizzato da segni clinici variabili. La maggior parte dei soggetti è asintomatica, mentre altri possono presentare ritardo della crescita, ipotonia, convulsioni, ritardo dello sviluppo e miopatia progressiva."},"nl":{"name":"Korte keten acyl-CoA-dehydrogenasedeficiëntie","synonyms":["ACADS-deficiëntie","SCAD-deficiëntie","SCADD"],"definition":"Korte keten acyl-CoA-dehydrogenase (SCAD)-deficiëntie is een zeer zeldzame aangeboren afwijking van de mitochondriale vetzuuroxidatie gekenmerkt door variabele manifestaties, variërend van asymptomatische individuen (in de meeste gevallen) tot gevallen met hypotonie, onvermogen om te gedijen, insulten, ontwikkelingsachterstand en progressieve myopathie."},"pt":{"name":"Deficiência de acil-CoA desidrogenase de cadeias curtas","synonyms":["Deficiência de SCAD"],"definition":"A deficiência de acil-CoA desidrogenase de cadeia curta (SCAD) é um erro inato muito raro da oxidação mitocondrial dos ácidos gordos, caracterizado por manifestações variáveis, que vão desde indivíduos assintomáticos (na maioria dos casos) até aos que apresentam dificuldade de crescimento, hipotonia, convulsões, atraso no desenvolvimento e miopatia progressiva."},"pl":{"name":"Niedobór dehydrogenazy krótkiego łańcucha acetylo-CoA","synonyms":["Niedobór ACADS","Niedobór SCAD","SCADD"]},"cs":{"name":"Deficit acyl-CoA dehydrogenázy s krátkým řetězcem","synonyms":["Deficit ACADS","Deficit SCAD","SCADD"]},"uk":{"name":"Дефіцит коротколанцюгової ацил-КоА-дегідрогенази","synonyms":["Дефіцит ACADS","Дефіцит SCAD","SCADD"],"definition":"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy."},"zh":{"name":"短链酰基辅酶A脱氢酶缺乏症","synonyms":["ACADS缺乏症"]},"tr":{"name":"Kısa zincirli açil-CoA dehidrojenaz eksikliği","synonyms":["SCADD","SCAD eksikliği","ACADS eksikliği"]}},"xrefs":[{"source":"OMIM","code":"201470","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":"180018315"},{"source":"MONDO","code":"0008722","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537596","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342783","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4822","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072655","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]},{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACADS","name":"acyl-CoA dehydrogenase short chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21938826[PMID]","hgnc":"90","ensembl":"ENSG00000122971","omim":"606885","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Netherlands","status":"Validated","source":"21500142[PMID]_22608595[PMID]_22241096[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-14","source":"21938826[PMID]_18054510[PMID]_18523805[PMID]","terms":[{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003219","label":"Ethylmalonic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410153","label":"Increased level of methylsuccinic acid in urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006929","label":"Hypoglycemic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012734","label":"Ketotic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}