{"orpha":79315,"name":"D-2-hydroxyglutaric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["D-2-HGA","D-2-hydroxyglutaric acidemia"],"definition":"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79315/","orphanet_url":"https://www.orpha.net/en/disease/detail/79315","names":{"fr":{"name":"Acidurie D-2-hydroxyglutarique","synonyms":["Acidémie D-2-hydroxyglutarique","D-2-HGA"],"definition":"L'acidurie D-2- hydroxyglutarique (D-2-HGA) est une forme neurologique variable rare d'acidurie 2-hydroxyglutarique caractérisée sur le plan biochimique par des taux élevés d'acide D-2-hydroxyglutarique dans les urines, le plasma et le liquide céphalo-rachidien."},"de":{"name":"D-2-Hydroxy-Glutarazidurie","synonyms":["D-2-Hydroxyglutaryl-Azidämie","D-2-HGA"],"definition":"Die D-2-Hydroxyglutarazidurie (D-2-HGA) ist eine seltene, klinisch unterschiedlich verlaufende Form der 2-Hydroxyglutarazidurie (s. dort) und biochemisch gekennzeichnet durch erhöhte Konzentrationen von D-2-Hydroxyglutarsäure (D-2-HG) in Urin, Plasma und Zerebrospinalflüssigkeit."},"es":{"name":"Aciduria D-2-hidroxiglutárica","synonyms":["Acidemia D-2-hidroxiglutárica","D-2-HGA"],"definition":"La aciduria D-2-hidroxiglutárica (D-2-HGA) es una forma neurológica rara clínicamente variable de la aciduria 2-hidroxiglutárica (ver este término) caracterizada bioquímicamente por la elevación de ácido D-2-hidroxiglutárico (D-2-HG) en la orina, plasma y líquido cefalorraquídeo."},"it":{"name":"Aciduria D-2-idrossiglutarica","synonyms":["Acidemia D-2-idrossiglutarica","D-2-HGA"],"definition":"L'aciduria D-2-idrossiglutarica (D-2-HGA) è una forma neurologica, clinicamente variabile, dell'aciduria 2-idrossiglutarica (si veda questo termine) caratterizzata, a livello biochimico, da un aumento dell'acido D-2-idrossiglutarico (D-2-HG) nelle urine, nel plasma e nel liquido cefalorachidiano."},"nl":{"name":"D-2-hydroxyglutaaracidurie","synonyms":["D-2-HGA","D-2-hydroxyglutaaracidemie"],"definition":"D-2-hydroxyglutaarzuuracidurie (D-2-HGA) is een zeldzame klinische variabele neurologische vorm van 2-hydroxyglutaarzuuracidurie (zie deze term), biochemisch gekenmerkt door verhoogd D-2-hydroxyglutaarzuur (D-2-HG) in de urine, het plasma en het cerebrospinaal vocht."},"pt":{"name":"Acidúria D-2-hidroxiglutárica","definition":"A acidúria D-2-hidroxiglutárica (D-2-HGA) é uma forma neurológica rara e clinicamente variável de acidúria 2-hidroxiglutárica (ver este termo). Caracteriza-se bioquimicamente por valores de ácido D-2-hidroxiglutárico elevado (D-2-HG) na urina, no plasma e no líquido cefalorraquidiano."},"pl":{"name":"D-2-acyduria hydroksyglutarowa","synonyms":["D-2-HGA","D-2-kwasica hydroksyglutarowa"],"definition":"D-2-acyduria hydroksyglutarowa (D-2-HGA) jest rzadką, klinicznie zmienną postacią acydurii 2-hydroksyglutarowej (zob. to hasło), charakteryzującą się pod względem biochemicznym podwyższonym poziomem kwasu D-2- hydroksyglutarowego (D-2-HG) w moczu, osoczu oraz płynie mózgowo-rdzeniowym."},"cs":{"name":"D-2-Hydroxyglutarová acidurie","synonyms":["D-2-HGA","D-2-Hydroxyglutarová acidémie"]},"uk":{"name":"D-2-гідроксиглутарова ацидурія","synonyms":["D-2-HGA","D-2-гідроксиглутарова ацидемія"],"definition":"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid."},"zh":{"name":"D-2-羟基戊二酸尿症","synonyms":["D-2-羟基戊二酸血症"]},"tr":{"name":"D-2-hidroksiglutarik asidüri","synonyms":["D-2-HGA","D-2-hidroksiglutarik asidemi"]}},"xrefs":[{"source":"OMIM","code":"600721","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613657","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1170122566"},{"source":"MONDO","code":"0010924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833429","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":19,"name":"2-hydroxyglutaric aciduria","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"IDH2","name":"isocitrate dehydrogenase (NADP(+)) 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20847235[PMID]","hgnc":"5383","ensembl":"ENSG00000182054","omim":"147650","loci":["15q26.1"]},{"symbol":"D2HGDH","name":"D-2-hydroxyglutarate dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20020533[PMID]","hgnc":"28358","ensembl":"ENSG00000180902","omim":"609186","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2025-08-27","source":"35359529[PMID]_39839460[PMID]","terms":[{"hpo":"HP:0040146","label":"D-2-hydroxyglutaric acidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012321","label":"D-2-hydroxyglutaric aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000246","label":"Elevated CSF D-2-hydroxyglutaric acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}