{"orpha":557064,"name":"Neonatal epileptic encephalopathy due to glutaminase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-557064/","orphanet_url":"https://www.orpha.net/en/disease/detail/557064","names":{"fr":{"name":"Encéphalopathie épileptique néonatale par déficit en glutaminase","definition":"Maladie neurométabolique génétique rare caractérisée par des crises épileptiques réfractaires néonatales à début précoce, une hypotonie et une insuffisance respiratoire. L'IRM révèle une structure peu marquée du gyrus des lobes frontaux, des anomalies de la substance blanche, une gliose et une perte de volume dans diverses régions du cerveau, ainsi qu'un oedème vasogénique. Les taux sériques de glutamine sont significativement élevés. Le décès survient quelques semaines après la naissance."},"de":{"name":"Neonatale epileptische Enzephalopathie durch Glutaminase-Mangel","definition":"Eine seltene genetisch bedingte neurometabolische Störung, die durch frühe neonatale refraktäre Anfälle, Hypotonie und Atemversagen gekennzeichnet ist. Die Bildgebung des Gehirns zeigt ein vereinfachtes Gyralmuster des Frontallappens, Anomalien der weißen Substanz, Gliose und Volumenverlust in verschiedenen Hirnregionen sowie ein vasogenes Ödem. Die Glutaminwerte im Serum sind deutlich erhöht. Der Tod tritt innerhalb weniger Wochen nach der Geburt ein."},"es":{"name":"Encefalopatía epiléptica neonatal por deficiencia de glutaminasa","definition":"Es una enfermedad neurometabólica genética poco frecuente caracterizada por crisis neonatales tempranas refractarias, hipotonía e insuficiencia respiratoria. Las imágenes cerebrales revelan un patrón de alteración de la sulcación de los lóbulos frontales, anomalías de la sustancia blanca, gliosis y pérdida de volumen en diversas regiones del cerebro, y edema vasogénico. Los niveles de glutamina sérica están significativamente elevados. El fallecimiento se produce pocas semanas después del nacimiento."},"it":{"name":"Encefalopatia epilettica neonatale da deficit di glutaminasi","definition":"Si tratta di una malattia neurometabolica rara, di origine genetica, caratterizzata da crisi epilettiche refrattarie ad esordio neonatale, ipotonia e insufficienza respiratoria. Le neuroimmagini mostrano la semplificazione delle circonvoluzioni dei lobi frontali, anomalie della sostanza bianca, gliosi e perdita del volume in diverse aree cerebrali, ed edema vasogenico. I livelli di glutammina nel siero sono significativamente elevati. I pazienti muoiono alcune settimane dopo la nascita."},"nl":{"name":"Neonatale epileptische encefalopathie door glutaminasedeficiëntie","definition":"Een zeldzame, genetische neurometabole aandoening, gekarakteriseerd door vroeg-neonatale refractaire insulten, hypotonie, en respiratoir falen. Beeldvorming van hersenen toont verminderd aantal hersenwindingen van frontale kwabben, afwijkingen van witte stof, gliose en volumeverlies in verschillende hersengebieden, en vasogeen oedeem. Glutaminegehaltes in serum zijn significant verhoogd. Overlijden treedt op binnen enkele weken na de geboorte."},"pt":{"name":"Encefalopatia epiléptica neonatal devido a deficiência de glutaminase"},"pl":{"name":"Encefalopatia padaczkowa noworodkowa z powodu niedoboru glutaminazy"},"cs":{"name":"Novorozenecká epileptická encefalopatie z glutaminázového deficitu"},"uk":{"name":"Неонатальна епілептична енцефалопатія, зумовлена дефіцитом глутамінази","definition":"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth."},"zh":{"name":"谷氨酰胺酶缺乏诱导的新生儿癫痫性脑病","definition":"一种罕见的遗传性神经代谢病，以新生儿早期难治性癫痫发作、肌张力低下、呼吸衰竭为特征。脑影像学检查显示简化额叶旋转模式，白质异常，各脑区胶质增生和体积缩小，血管源性水肿。血清谷氨酰胺水平明显升高。出生后数周内死亡。"},"tr":{"name":"Glutaminaz eksikliğine bağlı yenidoğan epileptik ensefalopati"}},"xrefs":[{"source":"OMIM","code":"618328","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0032678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193030","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":289841,"name":"Disorder of glutamine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GLS","name":"glutaminase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30575854[PMID]","hgnc":"4331","ensembl":"ENSG00000115419","omim":"138280","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"30575854[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30575854[PMID]"}],"phenotypes":null}