{"orpha":79154,"name":"2-aminoadipic 2-oxoadipic aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-aminoadipic aciduria"],"definition":"A rare disorder of lysine and tryptophan metabolism characterized by 2-aminoadipic and 2-oxoadipic aciduria. Patients may also present with increased urinary excretion of alpha-hydroxyadipic acid. Variable clinical presentations have been found in patients including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy, and behavioral disorders (most commonly attention deficit hyperactivity disorder). However, many individuals with the biochemical phenotype are completely asymptomatic and thus the clinical significance of the condition is questionable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79154/","orphanet_url":"https://www.orpha.net/en/disease/detail/79154","names":{"fr":{"name":"Acidurie 2-aminoadipique 2-oxoadipique","synonyms":["Acidurie alpha-aminoadipique"],"definition":"Trouble rare du métabolisme de la lysine et du tryptophane caractérisé par une acidurie 2-aminoadipique 2-oxoadipique. Les patients peuvent également présenter une augmentation de l'excrétion urinaire de l'acide alpha-hydroxy-adipique. Des présentations cliniques observées chez les patients sont variables : hypotonie, retard de développement, déficience intellectuelle légère à sévère, ataxie, épilepsie et troubles du comportement (le plus souvent un trouble déficitaire de l'attention avec hyperactivité). Cependant, de nombreux individus présentant le phénotype biochimique sont totalement asymptomatiques, ce qui remet en question la signification clinique de la maladie."},"de":{"name":"2-Aminoadipin-2-Oxo-Adipin-Azidurie","synonyms":["Alpha-Aminoadipinazidurie"],"definition":"Eine seltene Störung des Lysin- und Tryptophanstoffwechsels, die durch 2-Aminoadipinsäure- und 2-Oxoadipinsäurazidurie gekennzeichnet ist. Die Patienten können auch eine erhöhte Urinausscheidung von Alpha-Hydroxyadipinsäure aufweisen. Bei den Patienten wurden unterschiedliche klinische Erscheinungsbilder festgestellt, darunter Hypotonie, Entwicklungsverzögerung, leichte bis schwere Intelligenzminderung, Ataxie, Epilepsie und Verhaltensstörungen (am häufigsten die Aufmerksamkeitsdefizit-Hyperaktivitätsstörung). Viele Personen mit dem biochemischen Phänotyp sind jedoch völlig asymptomatisch, so dass die klinische Bedeutung der Erkrankung fraglich ist."},"es":{"name":"Aciduria 2-aminoadípica 2-oxoadípica","synonyms":["Aciduria alfa-aminoadípica"],"definition":"Es un trastorno poco frecuente del metabolismo de la lisina y del triptófano caracterizado por aciduria 2-aminoadípica y 2-oxoadípica. Los pacientes también pueden presentar un aumento de la excreción urinaria de ácido alfa-hidroxiadípico. Se han descrito presentaciones clínicas variables que incluyen hipotonía, retraso del desarrollo, discapacidad intelectual de leve a grave, ataxia, epilepsia y trastornos de conducta (más comúnmente trastorno por déficit de atención e hiperactividad). Sin embargo, muchos pacientes con el fenotipo bioquímico permanecen completamente asintomáticos y, por tanto, la importancia clínica del trastorno es cuestionable."},"it":{"name":"Aciduria 2-aminoadipica 2-ossoadipica","synonyms":["Aciduria alfa-aminoadipica"],"definition":"L'aciduria 2-aminoadipica 2-ossoadipica è una malattia rara del metabolismo della lisina e dell'idrossilisina, caratterizzata da un quadro clinico variabile, che comprende l'ipotonia, il ritardo dello sviluppo, la disabilità intellettiva lieve-grave, l'atassia, l'epilessia e i disturbi del comportamento, in particolare il deficit dell'attenzione con iperattività. Spesso non si associa ad un fenotipo clinico specifico."},"nl":{"name":"2-aminoadipine 2-oxoadipine-acidurie","synonyms":["Alfa-aminoadipineacidurie"],"definition":"Een zeldzame aandoening van metabolisme van lysine en tryptofaan, gekenmerkt door 2-aminoadipine- en 2-oxoadipine-acidurie. Patiënten kunnen zich ook presenteren met verhoogde excretie van alfa-hydroxyadipinezuur in urine. Er werden variabele klinische presentaties aangetroffen bij patiënten, waaronder hypotonie, ontwikkelingsachterstand, milde tot ernstige intellectuele achterstand, ataxie, epilepsie, en gedragsstoornissen (meestal aandachtstekortstoornis met hyperactiviteit). Vele individuen met het biochemische fenotype zijn echter volledig asymptomatisch en dus is het klinische belang van de aandoening twijfelachtig."},"pt":{"name":"Acidúria 2-aminoadípica","definition":"Doença rara do metabolismo da lisina e do triptofano caracterizada por acidúria 2-aminoadípica e 2-oxoadípica. Os doentes podem também apresentar aumento da excreção urinária de ácido alfa-hidroxiadípico. Foram identificadas apresentações clínicas variáveis nos doentes, incluindo hipotonia, atraso no desenvolvimento, perturbação do desenvolvimento intelectual ligeira a grave, ataxia, epilepsia e perturbações comportamentais (mais frequentemente perturbação de défice de atenção e hiperatividade). No entanto, muitos indivíduos com o fenótipo bioquímico são completamente assintomáticos, pelo que o significado clínico da doença é questionável."},"pl":{"name":"Acyduria 2-aminoadypino 2-oksyadypinowa","synonyms":["Acyduria alfa-aminoadypinowa"],"definition":"Rzadkie zaburzenie metabolizmu lizyny i tryptofanu charakteryzujące się kwasicą 2-aminoadypinową i 2-oksoadypinową. U pacjentów może występować zwiększone wydalanie kwasu alfa-hydroksyadypinowego z moczem. Obserwowano różne objawy kliniczne, w tym hipotonię, opóźnienie rozwoju, łagodną lub ciężką niepełnosprawność intelektualną, ataksję, padaczkę i zaburzenia zachowania (najczęściej zespół nadpobudliwości psychoruchowej z deficytem uwagi). Jednakże u wielu osób z fenotypem biochemicznym choroba przebiega całkowicie bezobjawowo, dlatego też jej kliniczne znaczenie jest wątpliwe."},"cs":{"name":"2-aminoadipová 2-oxoadipová acidurie","synonyms":["Alfa-aminoadipová acidurie"]},"uk":{"name":"2-аміноадипінова 2-оксоадипінова ацидурія","synonyms":["Альфа-аміноадипінова ацидурія"],"definition":"A rare disorder of lysine and tryptophan metabolism characterized by 2-aminoadipic and 2-oxoadipic aciduria. Patients may also present with increased urinary excretion of alpha-hydroxyadipic acid. Variable clinical presentations have been found in patients including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy, and behavioral disorders (most commonly attention deficit hyperactivity disorder). However, many individuals with the biochemical phenotype are completely asymptomatic and thus the clinical significance of the condition is questionable."},"zh":{"name":"2-氨基己二酸2-氧己二酸尿症","synonyms":["α-氨基己二酸尿"]},"tr":{"name":"2-aminoadipik 2-oksoadipik asidüri","synonyms":["Alfa-aminoadipik asidüri"]}},"xrefs":[{"source":"OMIM","code":"204750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.4","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008774","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859817","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289832,"name":"Disorder of lysine and hydroxylysine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DHTKD1","name":"dehydrogenase E1 and transketolase domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23141293[PMID]","hgnc":"23537","ensembl":"ENSG00000181192","omim":"614984","loci":["10p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"23141293[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-08-25","source":"23141293[PMID]_25860818[PMID]","terms":[{"hpo":"HP:0410309","label":"Alpha-aminoadipic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034465","label":"2-hydroxyadipic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000278","label":"Elevated circulating 2-aminoadipic acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}