{"orpha":79159,"name":"Isobutyryl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isobutyric aciduria"],"definition":"A rare organic aciduria characterized by isolated elevation of C4-acylcarnitine. Patient may be asymptomatic (notably during the early childhood) or may present with anemia, dilated cardiomyopathy, mild peripheral pulmonary stenosis, and carnitine deficiency. Mild developmental delay, speech delay, muscle hypotonia, emesis and dehydration have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79159/","orphanet_url":"https://www.orpha.net/en/disease/detail/79159","names":{"fr":{"name":"Déficit en isobutyryl-CoA déshydrogénase","synonyms":["Acidurie isobutyrique"],"definition":"Acidurie organique rare caractérisée par une élévation isolée du taux de d'acylcarnitine en C4. Le patient peut être asymptomatique (notamment pendant la petite enfance) ou présenter une anémie, une cardiomyopathie dilatée, une légère sténose pulmonaire périphérique et une carence en carnitine. Un léger retard de développement, un retard de parole, une hypotonie musculaire, des vomissements et une déshydratation ont également été rapportés."},"de":{"name":"Isobutyryl-CoA-Dehydrogenasemangel","synonyms":["Isobutyrazidurie"],"definition":"Der Isobutyryl-CoA-Dehydrogenase-Mangel ist ein angeborener Defekt im Stoffwechsel des Valins. Bisher wurde nur 1 Patient über seine Symptome (Anämie, Gedeihstörungen, dilatative Kardiomyopathie, Carnitin-Mangel im Plasma) erkannt und beschrieben."},"es":{"name":"Deficiencia de isobutiril-CoA-deshidrogenasa","synonyms":["Aciduria isobutírica"],"definition":"Es una aciduria orgánica poco frecuente caracterizada por una elevación aislada de los niveles de C4-acilcarnitina. El paciente puede permanecer asintomático (especialmente en la primera infancia) o presentar anemia, miocardiopatía dilatada, estenosis pulmonar periférica leve y deficiencia de carnitina. También se ha descrito un retraso leve del desarrollo y del habla, hipotonía muscular, vómitos y deshidratación."},"it":{"name":"Deficit di isobutirril-CoA deidrogenasi","synonyms":["Aciduria isobutirrica"]},"nl":{"name":"Deficiëntie van isobutyryl-CoA-dehydrogenase","synonyms":["Isoboterzuuracidurie"],"definition":"Een zeldzame organische acidurie, gekenmerkt door geïsoleerde toename van C4-acylcarnitine. Patiënten kunnen asymptomatisch zijn (vooral tijdens de vroege kindertijd) of zich presenteren met anemie, gedilateerde cardiomyopathie, milde perifere pulmonalisklepstenose, en deficiëntie van carnitine. Milde ontwikkelingsachterstand, spraakachterstand, spierhypotonie, braken en dehydratie werden ook reeds gerapporteerd."},"pt":{"name":"Deficiência de isobutiril-coA desidrogenase","synonyms":["Acidúria isobutírica"]},"pl":{"name":"Niedobór dehydrogenazy izobutyrylo-CoA","synonyms":["Acyduria izobutyrylowa"]},"cs":{"name":"Deficit izobutyryl-CoA dehydrogenázy","synonyms":["Izomáselná acidurie"]},"uk":{"name":"Дефіцит ізобутирил-КоА-дегідрогенази","synonyms":["Ізомаслянокисла ацидурія"],"definition":"Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the <i>ACAD8</i> gene (11q25)."},"zh":{"name":"异丁基辅酶A脱氢酶缺陷症","synonyms":["异丁酸尿症"]},"tr":{"name":"İzobutiril-KoA dehidrojenaz eksikliği","synonyms":["İzobütirik asidüri"]}},"xrefs":[{"source":"OMIM","code":"611283","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1304417099"},{"source":"MONDO","code":"0012648","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535541","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969809","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10223","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","classifications":[150,156]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"ACAD8","name":"acyl-CoA dehydrogenase family member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24635911[PMID]","hgnc":"87","ensembl":"ENSG00000151498","omim":"604773","loci":["11q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-24","source":"12736383[PMID]_15505379[PMID]_16857760[PMID]_30253142[PMID]_28053874[PMID]","terms":[{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003215","label":"Dicarboxylic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012734","label":"Ketotic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}