{"orpha":33,"name":"Isovaleric acidemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isovaleric acid CoA dehydrogenase deficiency"],"definition":"A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33/","orphanet_url":"https://www.orpha.net/en/disease/detail/33","names":{"fr":{"name":"Acidémie isovalérique","synonyms":["Déficit en Isovaléryl-CoA déshydrogénase"],"definition":"Acidurie organique rare autosomique dominante, caractérisée par une présentation clinique variable allant d'une décompensation métabolique aiguë à début néonatal à des manifestations non spécifiques chroniques à début plus tardif, dont un retard de croissance et/ou un retard de développement. Tous les patients sont sujets à des épisodes intermittents de décompensation métabolique aiguë. Lors de ces épisodes métaboliques, l'analyse des urines met en évidence des taux élevés de dérivés de l'acide isovalérique."},"de":{"name":"Isovalerianazidämie","synonyms":["Isovaleryl-CoA-Dehydrogenase-Mangel"],"definition":"Eine seltene, autosomal-rezessiv vererbte organische Azidurie, die sich durch ein variables klinisches Erscheinungsbild auszeichnet, das vom akuten neonatalen Auftreten einer metabolischen Dekompensation bis zum späteren Auftreten chronischer, unspezifischer Manifestationen einschließlich Gedeihstörungen und/oder Entwicklungsverzögerungen reicht. Alle Patienten neigen zu intermittierender, akuter metabolischer Dekompensation. Während der metabolischen Episoden werden in der Urinanalyse erhöhte Isovaleriansäure-Derivate nachgewiesen."},"es":{"name":"Acidemia isovalérica","synonyms":["Deficiencia de ácido isovalérico CoA deshidrogenasa"],"definition":"Es una aciduria orgánica, autosómica recesiva, poco frecuente caracterizada por una presentación clínica variable que va desde una descompensación metabólica aguda de inicio neonatal hasta un inicio tardío con manifestaciones crónicas inespecíficas, incluyendo fallo de medro y/o retraso psicomotor. Todos los pacientes son propensos a una descompensación metabólica aguda e intermitente. Durante los episodios metabólicos, los análisis de orina muestran unos niveles elevados de derivados del ácido isovalérico."},"it":{"name":"Acidemia isovalerica","synonyms":["Deficit di CoA deidrogenasi dell'acido isovalerico"],"definition":"L'acidemia isovalerica (IVA) è un'aciduria organica rara autosomica recessiva, caratterizzata da un quadro clinico variabile che comprende lo scompenso metabolico ad esordio neonatale, fino a sintomi cronici aspecifici ad esordio più tardivo, incluso il ritardo della crescita e/o dello sviluppo. Tutti i pazienti sono predisposti allo scompenso metabolico acuto intermittente. Durante gli episodi metabolici, l'analisi delle urine evidenzia livelli elevati dei derivati dell'acido isovalerico."},"nl":{"name":"Isovaleriaanacidemie","synonyms":["Isovaleriaanacidurie","Isovaleryl-CoA-dehydrogenasedeficiëntie"],"definition":"Een zeldzame autosomaal recessieve organische acidurie, gekarakteriseerd door een variabele klinische presentatie gaande van acute neonatale aanvang van metabole decompensatie tot latere aanvang van chronische, aspecifieke manifestaties waaronder groeifalen en/of ontwikkelingsachterstand. Alle patiënten zijn vatbaar voor intermitterende, acute metabole decompensatie. Tijdens metabole episodes toont analyse van urine een toename van derivaten van isovaleriaanzuur."},"pt":{"name":"Acidemia isovalérica","synonyms":["Deficiência de ácido isovalérico-CoA desidrogenase"],"definition":"Uma acidúria orgânica rara, autossómica recessiva, caracterizada por uma apresentação clínica variável, que vai desde o início neonatal agudo de descompensação metabólica até ao início posterior de manifestações crónicas e inespecíficas, incluindo falência de crescimento e/ou atraso no desenvolvimento. Todos os doentes são propensos a descompensação metabólica aguda intermitente. Durante os episódios metabólicos, a análise à urina demonstra níveis elevados de derivados do ácido isovalérico."},"pl":{"name":"Kwasica izowalerianowa","synonyms":["Niedobór dehydrogenazy kwasy izowalerianowego CoA"],"definition":"Rzadka kwasica organiczna o dziedziczeniu autosomalnym recesywnym charakteryzująca się zmiennym obrazem klinicznym: od ostrej dekompensacji metabolicznej u noworodków do przewlekłych, nieswoistych objawów w późniejszym okresie życia, w tym braku / opóźnienia prawidłowego rozwoju. Wszyscy pacjenci są narażeni na okresową, ostrą dekompensację metaboliczną. Podczas epizodów dekompensacji metabolicznej w moczu stwierdza się podwyższone stężenie pochodnych kwasu izowalerianowego."},"cs":{"name":"Isovalerová acidémie","synonyms":["Deficit isovaleryl-CoA-dehydrogenázy"]},"uk":{"name":"Ізовалеріанова ацидемія","synonyms":["Дефіцит КоА-дегідрогенази ізовалеріанової кислоти"],"definition":"A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives."},"zh":{"name":"异戊酸血症","synonyms":["异戊酸辅酶A脱氢酶缺乏症"]},"tr":{"name":"İzovalerik asidemi","synonyms":["İzovalerik asit KoA dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"243500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1817788413"},{"source":"MONDO","code":"0009475","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538167","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268575","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"465","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083852","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IVD","name":"isovaleryl-CoA dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6186","ensembl":"ENSG00000128928","omim":"607036","loci":["15q15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.55,"area":"Germany","status":"Not yet validated","source":"12777559[PMID]_21335445[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Australia","status":"Validated","source":"12788994[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.63,"area":"Italy","status":"Validated","source":"18956250[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.53,"area":"United States","status":"Not yet validated","source":"16601872[PMID]_16735252[PMID]_ ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-05-23","source":"16602101[PMID]_38484105[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033111","label":"3-hydroxyisovaleric aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033447","label":"Elevated circulating isovalerylcarnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031962","label":"Elevated serum anion gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001735","label":"Acute pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Very rare (<4-1%)","criteria":null}]}}