{"orpha":356978,"name":"D,L-2-hydroxyglutaric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["D,L-2-hydroxyglutaric acidemia","Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia","Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria","D,L-2-HGA"],"definition":"A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-356978/","orphanet_url":"https://www.orpha.net/en/disease/detail/356978","names":{"fr":{"name":"Acidurie D,L-2-hydroxyglutarique","synonyms":["Acidurie combinée D-2-hydroxyglutarique et L-2-hydroxyglutarique","Acidémie D,L-2-hydroxyglutarique","Acidémie combinée D-2-hydroxyglutarique et L-2-hydroxyglutarique","D,L-2-HGA"],"definition":"Erreur innée du métabolisme rare caractérisée par une encéphalopathie épileptique néonatale sévère, des épisodes d'apnée et de détresse respiratoire, un retard de développement global sévère ou une absence de développement psychomoteur, une hypotonie musculaire sévère ou une absence de mouvements volontaires, des difficultés à s'alimenter et un retard de croissance staturo-pondérale, une absence de contact visuel, des anomalies de la morphologie cérébrale (y compris atrophie cérébrale, ventriculomégalie et hypoplasie ou dysplasie du corps calleux), une légère dysmorphie faciale (front proéminent, hypertélorisme, fentes palpébrales inclinées vers le bas, pont nasal aplati), un taux élevé de lactate dans le liquide cérébrospinal (LCS) et le plasma et de métabolites urinaires du cycle de Krebs."},"de":{"name":"D,L-2-Hydroxy-Glutarazidurie","synonyms":["D,L-2-HGA","D,L-2-Hydroxyglutarazidämie","D-2-Hydroxyglutarazidurie und L-2-Hydroxyglutarazidurie, kombiniert","D-2-Hydroxyglutarazidämie und L-2-Hydroxyglutarazidämie, kombiniert"]},"es":{"name":"Aciduria D,L-2-hidroxiglutárica","synonyms":["Acidemia D,L-2-hidroxiglutárica","Acidemia D-2-hidroxiglutárica y acidemia L-2-hidroxiglutárica combinada","Aciduria D-2-hidroxiglutárica y aciduria L-2-hidroxiglutárica combinada","D,L-2-HGA"],"definition":"Es un error innato del metabolismo poco frecuente caracterizado por encefalopatía epiléptica neonatal grave, episodios de apnea y dificultad respiratoria, grave retraso global del desarrollo o ausencia de desarrollo psicomotor, hipotonía muscular grave o ausencia de movimientos voluntarios, dificultades en la alimentación y fallo de medro, contacto visual ausente, morfología cerebral anómala (incluyendo atrofia cerebral, ventriculomegalia e hipoplasia o displasia del cuerpo calloso), características dismórficas leves (frente prominente, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, puente nasal plano) y niveles elevados de lactato en plasma y líquido cefalorraquideo, así como de metabolitos del ciclo de Krebs en orina."},"it":{"name":"Aciduria D,L-2-idrossiglutarica","synonyms":["Acidemia D,L-2-idrossiglutarica","Acidemia combinata D-2-idrossiglutarica e L-2-idrossiglutarica","Aciduria combinata D-2-idrossiglutarica e L-2-idrossiglutarica","D,L-2-HGA"],"definition":"L'aciduria D,L-2-idrossiglutarica è un errore congenito raro del metabolismo, caratterizzato da encefalopatia epilettica neonatale grave, episodi di apnea e distress respiratorio, grave ritardo dello sviluppo globale o assenza dello sviluppo psicomotorio, ipotonia muscolare grave o assenza dei movimenti volontari, difficoltà di alimentazione, ritardo della crescita, assenza di contatto visivo, anomalie morfologiche del cervello (che comprendono l'atrofia cerebrale, la ventricolomegalia e l'ipoplasia o la displasia del corpo calloso), dismorfismi sfumati (fronte bombata, ipertelorismo, rime palpebrali oblique verso il basso, sella nasale piatta), livelli elevati di lattato nel liquido cerebrospinale e nel plasma e dei metaboliti del ciclo di Krebs nelle urine."},"nl":{"name":"D,L-2-hydroxyglutaaracidurie","synonyms":["D,L-2-HGA","D,L-2-hydroxyglutaaracidemie","Gecombineerde D-2-hydroxyglutaaracidemie en L-2-hydroxyglutaaracidemie","Gecombineerde D-2-hydroxyglutaaracidurie en L-2-hydroxyglutaaracidurie"],"definition":"Een zeldzame, aangeboren stofwisselingsziekte, gekarakteriseerd door ernstige neonatale epileptische encefalopathie, episodes van apneu en ademnood, ernstige algehele ontwikkelingsachterstand of afwezige psychomotorische ontwikkeling, ernstige musculaire hypotonie of afwezige vrijwillige bewegingen, voedingsproblemen en groeifalen, afwezigheid van visueel contact, abnormale morfologie van de hersenen (waaronder cerebrale atrofie, ventriculomegalie en hypoplasie of dysplasie van corpus callosum), milde dysmorfe kenmerken (boller voorhoofd, hypertelorisme, schuin naar beneden hellende ooglidspleten, platte neusbrug), verhoogde gehaltes van lactaat in cerebrospinaal vocht en plasma en van metabolieten van de Krebscyclus in urine."},"pt":{"name":"Acidúria hidroxiglutáricaD,L - 2"},"pl":{"name":"Acyduria D,L-2-hydroksyglutarowa","synonyms":["D,L-2-HGA","Kwasica D,L-2-hydroksyglutarowa","Złożona acyduria D-2-hydroksyglutarowa i L-2-hydroksyglutarowa","Złożona kwasica D-2-hydroksyglutarowa i L-2-hydroksyglutarowa"],"definition":"*Acyduria D,L-2-hydroksyglutarowa jest rzadkim wrodzonym błędem metabolizmu, który charakteryzuje się ciężką noworodkową encefalopatią padaczkową, epizodami bezdechu i niewydolności oddechowej, poważnym całościowym opóźnieniem lub brakiem rozwoju psychoruchowego, ciężką hipotonią mięśniową lub brakiem ruchów dowolnych, trudnościami w odżywianiu i zahamowaniem rozwoju, brakiem kontaktu wzrokowego, nieprawidłowościami strukturalnymi mózgu (które obejmują zanik atrofia mózgu, powiększenie komór oraz hipoplazję lub dysplazję ciała modzelowatego), łagodnymi objawami dysmorficznymi (wydatne czoło, hiperteloryzm, skierowane skośnie ku dołowi szpary powiekowe, płaski grzbiet nosa), podwyższonym stężeniem mleczanów w płynie mózgowo-rdzeniowym i osoczu oraz metabolitów cyklu Krebsa w moczu."},"cs":{"name":"D,L-2-hydroxyglutarová acidurie","synonyms":["Kombinovaná D-2-hydroxyglutarová acidemie a L-2-hydroxyglutarová acidemie","Kombinovaná D-2-hydroxyglutarová acidurie a L-2-hydroxyglutarová acidurie","D,L-2-HGA","D,L-2-hydroxyglutarová acidemie"]},"uk":{"name":"D,L-2-гідроксиглутарова ацидурія","synonyms":["Поєднання D-2-гідроксиглутарової та L-2-гідроксиглутарової ацидемії","Поєднання D-2-гідроксиглутарової та L-2-гідроксиглутарової ацидурії","D,L-2-HGA","D,L-2-гідроксиглутарова ацидемія"],"definition":"A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites."},"zh":{"name":"2-羟基戊二酸尿症（D型和L型复合型）","synonyms":["D-2-羟基戊二酸尿症和L-2-羟基戊二酸尿症"],"definition":"本病是一种罕见的先天代谢错误，特征为严重的新生儿癫痫性脑病、呼吸暂停和呼吸窘迫、严重的全面发育迟缓或缺乏精神运动发育、严重的肌张力低下或缺乏自主活动、进食困难和体重增长不良、缺乏视觉接触、脑形态异常(包括脑萎缩、脑室扩大和胼胝体发育不良或发育不良)、轻度畸形特征(额部隆起、眼距过宽、睑裂下斜和鼻梁扁平)、脑脊液及血浆中的乳酸水平增高和尿液中三羧酸循环代谢物增加。"},"tr":{"name":"D, L-2-hidroksiglutarik asidüri","synonyms":["D,L-2-HGA","D, L-2-hidroksiglutarik asidemi","Kombine D-2-hidroksiglutarik asidemi ve L-2-hidroksiglutarik asidemi","Kombine D-2-hidroksiglutarik asidüri ve L-2-hidroksiglutarik asidüri"]}},"xrefs":[{"source":"OMIM","code":"615182","qualifier":"E","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":"attributed","validated":true},{"source":"MONDO","code":"0014072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574940","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":"SLC25A1","name":"solute carrier family 25 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23561848[PMID]_23393310[PMID]","hgnc":"10979","ensembl":"ENSG00000100075","omim":"190315","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"23561848[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}