{"orpha":19,"name":"2-hydroxyglutaric aciduria","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["2-hydroxyglutaric acidemia"],"definition":"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-19/","orphanet_url":"https://www.orpha.net/en/disease/detail/19","names":{"fr":{"name":"Acidurie 2-hydroxyglutarique","synonyms":["Acidémie 2-hydroxyglutarique"],"definition":"L'acidurie 2-hydroxyglutarique est un groupe de maladies neurométaboliques avec un large spectre clinique allant de manifestations néonatales sévères à des formes progressives, et des cas asymptomatiques, caractérisé sur le plan biochimique par des taux élevés d'acide hydroxyglutarique 2 dans le plasma, le liquide céphalo-rachidien et les urines."},"de":{"name":"2-Hydroxy-Glutarazidurie","synonyms":["2-Hydroxyglutarazidämie"],"definition":"Die 2-Hydroxyglutarazidurie ist eine Gruppe neurometabolischer Krankheiten mit einem weiten klinischen Spektrum, das von schweren Symptomen bei Neugeborenen bis zu progredienten Formen und asymptomatischen Fällen reicht. Sie ist biochemisch gekennzeichnet durch erhöhte Spiegel von 2-Hydroxyglutarsäure in Plasma, Zerebrospinalflüssigkeit und Urin."},"es":{"name":"Aciduria 2-hidroxiglutárica","synonyms":["Acidemia 2-hidroxiglutárica"],"definition":"La aciduria 2-hidroxiglutárica es un grupo de enfermedades neurometabólicas con un amplio espectro clínico que abarca desde cuadros neonatales graves a formas progresivas, y casos asintomáticos, caracterizadas bioquimicamente por niveles elevados de ácido 2-hidroxiglutárico en plasma, líquido cefalorraquídeo y orina."},"it":{"name":"Aciduria 2-idrossiglutarica","synonyms":["Acidemia 2-idrossiglutarica"],"definition":"L'aciduria 2-idrossiglutarica fa parte di un gruppo di malattie neurometaboliche con ampio spettro clinico, che varia dai segni neonatali gravi alle forme progressive e ai casi asintomatici, caratterizzati, a livello biochimico, da un aumento dei livelli di acido 2-idrossiglutarico nel plasma, nel liquido cefalorachidiano e nelle urine."},"nl":{"name":"2-hydroxyglutaaracidurie","synonyms":["2-hydroxyglutaaracidemie"],"definition":"2-hydroxyglutaarzuuracidurie is een groep neurometabole aandoeningen met een breed spectrum van klinisch ernstige neonatale presentaties tot progressieve vormen, en asymptomatische gevallen, biochemisch gekarakteriseerd door verhoogde gehaltes aan 2-hydroxyglutaarzuur in het plasma, de urine en het cerebrospinale vocht."},"pt":{"name":"Acidúria 2-hidroxiglutárica","definition":"A acidúria 2-hidroxiglutárica representa um grupo de doenças neurometabólicas com amplo espectro clínico e que pode variar desde apresentação clínica neonatal grave, às formas progressivas ou assintomáticas. Em termos bioquímicos caracteriza-se por níveis aumentados de ácido 2-hidroxiglutárico no plasma, na urina e no líquido cefalorraquidiano."},"pl":{"name":"Acyduria 2-hydroksyglutarowa","synonyms":["Kwasica 2-hydroksyglutarowa"],"definition":"Acyduria 2-hydroksyglutarowa to grupa zaburzeń neurometabolicznych o szerokim spektrum klinicznym, począwszy od ciężkich przypadków noworodkowych do postaci postępujących oraz przypadków bezobjawowych, charakteryzujących się pod względem biochemicznym zwiększonym poziomem kwasu 2-hydroksyglutarowego w osoczu, płynie mózgowo-rdzeniowym i moczu."},"cs":{"name":"Acidurie D-2-hydroxyglutarová","synonyms":["2-hydroxyglutarová acidemie"]},"uk":{"name":"2-гідроксиглутарова ацидурія","synonyms":["2-гідроксиглутарова ацидемія"],"definition":"2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine."},"zh":{"name":"2-羟基谷氨酸尿症","synonyms":["2-羟谷氨酸血症"]},"tr":{"name":"2-hidroksiglutarik asidüri","synonyms":["2-hidroksiglutarik asidemi"]}},"xrefs":[{"source":"MONDO","code":"0016001","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16001","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2746066","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10761","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078971","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":79158,"name":"Cerebral organic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":356978,"name":"D,L-2-hydroxyglutaric aciduria","type":"Disease"},{"orpha":79315,"name":"D-2-hydroxyglutaric aciduria","type":"Disease"},{"orpha":79314,"name":"L-2-hydroxyglutaric aciduria","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}