{"orpha":31,"name":"Oxoglutaric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-ketoglutarate dehydrogenase deficiency"],"definition":"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-31/","orphanet_url":"https://www.orpha.net/en/disease/detail/31","names":{"fr":{"name":"Acidurie oxoglutarique","synonyms":["Déficit en alpha-cétoglutarate déshydrogénase"],"definition":"Trouble génétique rare innée du métabolisme, caractérisée par un retard de développement néonatal, une hypotonie, une hépatomégalie, une acidémie lactique, une augmentation du taux de créatine kinase, une augmentation de l'acide alpha-cétoglutarique dans l'urine et une diminution du rapport bêta-hydroxybutyrate/acétoacétate dans le plasma. Une déficience en pyruvate déshydrogénase peut être associée, entraînant une hypoglycémie et des anomalies neurologiques, y compris des convulsions."},"de":{"name":"Oxoglutarazidurie","synonyms":["Alpha-Ketoglutarat-Dehydrogenase-Mangel"],"definition":"Eine seltene, genetisch bedingte, angeborene Stoffwechselstörung, die durch eine Entwicklungsverzögerung bei Neugeborenen, Hypotonie, Hepatomegalie, Laktatazidämie, erhöhte Kreatinkinasewerte, erhöhte Alpha-Ketoglutarsäure im Urin und ein vermindertes Verhältnis von Beta-Hydroxybutyrat zu Acetoacetat im Plasma gekennzeichnet ist. Ein Pyruvatdehydrogenasemangel kann assoziiert sein und zu Hypoglykämie und neurologischen Anomalien z.B. Krampfanfällen, führen."},"es":{"name":"Aciduria oxoglutárica","synonyms":["Deficiencia de alfa-cetoglutarato deshidrogenasa"],"definition":"Es un error innato del metabolismo, de origen genético y poco frecuente, caracterizado por un inicio neonatal de retraso del desarrollo, hipotonía, hepatomegalia, acidosis láctica, incremento de los niveles de creatinquinasa, niveles elevados de alfa-cetoglutarato en orina y disminución del cociente beta-hidroxibutirato / acetoacetato en plasma. También puede asociar deficiencia de piruvato deshidrogenasa, que conduce a hipoglucemia y anomalías neurológicas tales como convulsiones."},"it":{"name":"Aciduria ossoglutarica","synonyms":["Deficit di alfa chetoglutarato deidrogenasi"],"definition":"È un errore congenito raro del metabolismo, di origine genetica, caratterizzato da ritardo dello sviluppo ad esordio neonatale, ipotonia, epatomegalia, acidemia lattica, livelli elevati di creatin-chinasi e di acido alfa-chetoglutarico nelle urine, e ad un ridotto rapporto beta-idrossibutirrato-acetoacetato nel plasma. Può associarsi ad un deficit di piruvato deidrogenasi, con conseguente ipoglicemia ed anomalie neurologiche."},"nl":{"name":"Oxoglutaaracidurie","synonyms":["Alfa-ketoglutaraatdehydrogenasedeficiëntie","2-ketoglutaarzuurdehydrogenasedeficiëntie"],"definition":"Een zeldzame, genetische, aangeboren stofwisselingsziekte gekarakteriseerd door neonatale aanvang van ontwikkelingsachterstand, hypotonie, hepatomegalie, lactaatacidemie, verhoogde creatinekinasegehaltes, toename van alfa-ketoglutaarzuur in de urine, en een verlaagde bèta-hydroxybutyraat-acetoacetaat verhouding in het plasma. Deficiëntie van pyruvaatdehydrogenase kan geassocieerd zijn, en leidt tot hypoglycemie en neurologische anomalieën waaronder insulten."},"pt":{"name":"Acidúria oxoglutárica","synonyms":["Deficiência de alfa-cetoglutarato desidrogenase"]},"pl":{"name":"Kwasica oksoglutarowa","synonyms":["Niedobór dehydrogenazy alfa-ketoglutarowej"]},"cs":{"name":"2-oxoglutarová acidurie","synonyms":["Deficit alfa-ketoglutarátdehydrogenázy"]},"uk":{"name":"Оксоглутарова ацидурія","synonyms":["Дефіцит альфа-кетоглутаратдегідрогенази"],"definition":"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures."},"zh":{"name":"酮戊二酸尿症","synonyms":["α酮戊二酸脱氢酶缺乏症"]},"tr":{"name":"Oksoglutarik asidüri","synonyms":["Alfa-ketoglutarat dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"203740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1273268933"},{"source":"MONDO","code":"0008759","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536582","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2752074","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"617","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":254749,"name":"Tricarboxylic acid cycle disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"OGDH","name":"oxoglutarate dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"36520152[PMID]","hgnc":"8124","ensembl":"ENSG00000105953","omim":"613022","loci":["7p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012401","label":"Abnormal urine alpha-ketoglutarate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000816","label":"Abnormality of Krebs cycle metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010286","label":"Abnormal salivary gland morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null}]}}