{"orpha":289857,"name":"Neonatal glycine encephalopathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic glycine encephalopathy","Neonatal NKH","Neonatal non-ketotic hyperglycinemia"],"definition":"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289857/","orphanet_url":"https://www.orpha.net/en/disease/detail/289857","names":{"fr":{"name":"Encéphalopathie glycinique néonatale","synonyms":["Encéphalopathie glycinique classique","Hyperglycinémie non cétosique néonatale","NKH néonatale"],"definition":"L'encéphalopathie néonatale glycinique est une forme fréquente, généralement sévère d'encéphalopathie glycinique (GE) caractérisée par un coma, une apnée, une hypotonie, une épilepsie et des contractions myocloniques dans la période néonatale, avec un retard de développement."},"de":{"name":"Glycin-Enzephalopathie, neonatale","synonyms":["Klassische Glycin-Enzephalopathie","Neonatale nicht ketotische Hyperglycinämie"],"definition":"Die neonatale Glycin-Enzephalopathie ist eine häufige, in der Regel schwere Form der Glycin-Enzephalopathie (GE; siehe dort). Symptome in der Neonatalperiode sind Koma, Apnoe, Hypotonie, Anfälle und myoklonische Zuckungen. Im weiteren Verlauf ist die Entwicklung verzögert."},"es":{"name":"Encefalopatía por glicina neonatal","synonyms":["Encefalopatía por glicina clásica","Hiperglicemia no cetósica neonatal","NKH neonatal"],"definition":"La encefalopatía neonatal por glicina es una forma frecuente y normalmente grave de encefalopatía por glicina (GE; consulte este término), caracterizada por coma, apnea, hipotonía, convulsiones y espasmos mioclónicos en el periodo neonatal y un retraso en el desarrollo subsiguiente."},"it":{"name":"Encefalopatia da glicina, neonatale","synonyms":["Encefalopatia da glicina, classica","Iperglicinemia non chetotica neonatale","NKH neonatale"],"definition":"L'encefalopatia neonatale da glicina è una forma frequente, di solito grave, di encefalopatia da glicina (GE; si veda questo termine), caratterizzata da coma, apnea, ipotonia, convulsioni e mioclonie nel periodo neonatale, con un conseguente ritardo nello sviluppo."},"nl":{"name":"Neonatale glycine-encefalopathie","synonyms":["Klassieke glycine-encefalopathie","Neonatale NKH","Neonatale non-ketotische hyperglycinemie"],"definition":"Neonatale glycine-encefalopathie is een veelvoorkomende, meestal ernstige vorm van glycine-encefalopathie (GE; zie deze term) die gekarakteriseerd wordt door coma, apneu, hypotonie, insulten en myoclonische schokken tijdens de neonatale periode, en vervolgens ontwikkelingsachterstand."},"pt":{"name":"Encefalopatia neonatal por glicínica"},"pl":{"name":"Encefalopatia glicynowa noworodków","synonyms":["Klasyczna encefalopatia glicynowa","Nieketonowa hiperglicynemia noworodków","NKH noworodków"]},"cs":{"name":"Novorozenecká glycinová encefalopatie","synonyms":["Klasická glycinová encefalopatie","Novorozenecká NKH","Neketotická hyperglycinémie, novorozenecký typ"]},"uk":{"name":"Неонатальна гліцинова енцефалопатія","synonyms":["Класична гліцинова енцефалопатія","Неонатальна НКГ","Неонатальна некетотична гіпергліцинемія"],"definition":"Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay."},"zh":{"name":"新生儿甘氨酸脑病","synonyms":["新生儿非酮症高血糖"],"definition":"新生儿甘氨酸脑病是一种常见的重度甘氨酸脑病（GE；见本术语），其特征是新生儿期昏迷、呼吸暂停、肌张力低下、惊厥发作和肌阵挛样抽动，随后出现发育迟缓。"},"tr":{"name":"Yenidoğan glisin ensefalopatisi","synonyms":["Yenidoğan NKH","Klasik glisin ensefalopatisi","Yenidoğan ketotik olmayan hiperglisinemi"]}},"xrefs":[{"source":"OMIM","code":"605899","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620398","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620423","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"414151121"},{"source":"MONDO","code":"0017353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548200","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":407,"name":"Glycine encephalopathy","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"AMT","name":"aminomethyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301531[PMID]","hgnc":"473","ensembl":"ENSG00000145020","omim":"238310","loci":["3p21.31"]},{"symbol":"GCSH","name":"glycine cleavage system protein H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301531[PMID]","hgnc":"4208","ensembl":"ENSG00000140905","omim":"238330","loci":["16q23.2"]},{"symbol":"GLDC","name":"glycine decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301531[PMID]","hgnc":"4313","ensembl":"ENSG00000178445","omim":"238300","loci":["9p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}