{"orpha":289860,"name":"Infantile glycine encephalopathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile NKH","Infantile non-ketotic hyperglycinemia"],"definition":"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289860/","orphanet_url":"https://www.orpha.net/en/disease/detail/289860","names":{"fr":{"name":"Encéphalopathie glycinique infantile","synonyms":["Hyperglycinémie non cétosique infantile","NKH infantile"],"definition":"L'encéphalopathie infantile glycinique est une forme d'encéphalopathie glycinique (GE) allant de légère à sévère caractérisée par une hypotonie, un retard de développement et une épilepsie."},"de":{"name":"Glycin-Enzephalopathie, infantile","synonyms":["Infantile nicht ketotische Hyperglycinämie","NKH, infantil"],"definition":"Die infantile Glycin-Enzephalopathie ist eine milde bis schwere Form der Glycin-Enzephalopathie (GE; siehe dort), Sie ist gekennzeichnet durch frühe Hypotonie, verzögerte Entwicklung und Anfälle."},"es":{"name":"Encefalopatía por glicina infantil","synonyms":["Hiperglicemia no cetósica infantil","NKH infantil"],"definition":"La encefalopatía infantil por glicina es una forma de grado leve a grave de encefalopatía por glicina (GE; consulte este término), caracterizada por hipotonía temprana, retraso en el desarrollo y convulsiones."},"it":{"name":"Encefalopatia da glicina, infantile","synonyms":["Iperglicinemia non chetotica infantile","NKH infantile"],"definition":"L'encefalopatia infantile da glicina è una forma lieve-grave di encefalopatia da glicina (GE; si veda questo termine), caratterizzata da ipotonia precoce, ritardo dello sviluppo e convulsioni."},"nl":{"name":"Infantiele glycine-encefalopathie","synonyms":["Infantiele NKH","Infantiele non-ketotische hyperglycinemie"],"definition":"Infantiele glycine-encefalopathie is een milde tot ernstige vorm van glycine-encefalopathie (GE; zie deze term) die gekarakteriseerd wordt door vroege hypotonie, ontwikkelingsachterstand en insulten."},"pt":{"name":"Encefalopatia por glicina da infância"},"pl":{"name":"Dziecięca encefalopatia glicynowa","synonyms":["Dziecięca hiperglicynemia nieketonowa","NKH noworodków"]},"cs":{"name":"Glycinová encefalopatie s manifestací v kojeneckém věku","synonyms":["Kojenecká NKH","Neketotická hyperglycinémie s manifestací v kojeneckém věku"]},"uk":{"name":"Інфантильна гліцинова енцефалопатія","synonyms":["Інфантильний НКГ","Інфантильна некетотична гіпергліцинемія"],"definition":"Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures."},"zh":{"name":"婴儿甘氨酸脑病","synonyms":["婴儿非酮症高血糖"],"definition":"婴儿甘氨酸脑病是一种轻至重度甘氨酸脑病（GE；见本术语），其特征是早期肌张力低下、发育迟缓和惊厥发作。"},"tr":{"name":"İnfantil glisin ensefalopatisi","synonyms":["İnfantil NKH","Infantil 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":"563302182"},{"source":"MONDO","code":"0017354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548209","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"]},{"symbol":"SLC6A9","name":"solute carrier family 6 member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27481395[PMID]","hgnc":"11056","ensembl":"ENSG00000196517","omim":"601019","loci":["1p34.1"]}],"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}