{"orpha":407,"name":"Glycine encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NKA","Non-ketotic hyperglycinemia"],"definition":"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-407/","orphanet_url":"https://www.orpha.net/en/disease/detail/407","names":{"fr":{"name":"Encéphalopathie glycinique","synonyms":["Hyperglycinémie non cétosique","NKA"],"definition":"L'encéphalopathie glycinique (GE) est une erreur innée du métabolisme de la glycine caractérisée par une accumulation de glycine dans les flux corporels et les tissus, incluant le cerveau, et provoquant des manifestations neurométaboliques de gravité variable."},"de":{"name":"Glycin-Enzephalopathie","synonyms":["Hyperglycinämie, nicht-ketotische","NKA"],"definition":"Die Glycin-Enzephalopathie (GE) ist ein angeborener Fehler des Glycin-Stoffwechsels mit Akkumulation von Glycin in den Körperflüssigkeiten und Geweben, einschließlich des Gehirns. Die Folge sind neurometabolische Symptome unterschiedlichen Schweregrades."},"es":{"name":"Encefalopatía por glicina","synonyms":["Hiperglicinemia no cetósica","NKA"],"definition":"La encefalopatía por glicina (GE) es un error congénito del metabolismo de la glicina caracterizado por la acumulación de glicina en los fluidos y tejidos del cuerpo, incluyendo el cerebro, provocando síntomas neurometabólicos de gravedad variable."},"it":{"name":"Encefalopatia da glicina","synonyms":["Iperglicinemia non chetotica","NKA"],"definition":"L'encefalopatia da glicina (GE) è un difetto congenito del metabolismo della glicina, che si deposita nei liquidi e tessuti del corpo (ad es., il cervello), con conseguenti sintomi neurometabolici variabili."},"nl":{"name":"Glycine-encefalopathie","synonyms":["NKH","Non-ketotische hyperglycinemie"],"definition":"Glycine-encefalopathie (GE) is een aangeboren defect van het glycinemetabolisme en wordt gekarakteriseerd door accumulatie van glycine in lichaamsvloeistoffen en weefsels, waaronder de hersenen, met als gevolg neurometabole symptomen met variabele gradaties van ernst."},"pt":{"name":"Encefalopatia por glicina","synonyms":["Hiperglicinemia não-cetótica","NKA"]},"pl":{"name":"Encefalopatia glicynowa","synonyms":["Hiperglicynemia nieketonowa","NKA"]},"cs":{"name":"Glycinová encefalopatie","synonyms":["NKA","Neketotická hyperglycinémie"]},"uk":{"name":"Гліцинова енцефалопатія","synonyms":["NKA","Некетозна гіперглікемія"],"definition":"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity."},"zh":{"name":"甘氨酸脑病","synonyms":["非酮症高甘氨酸血症"]},"tr":{"name":"Glisin ensefalopatisi","synonyms":["NKA","Ketotik olmayan hiperglisinemi"]}},"xrefs":[{"source":"OMIM","code":"605899","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620398","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620423","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.70","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1491869639"},{"source":"MONDO","code":"0011612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020158","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751748","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7219","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":79194,"name":"Disorder of serine or glycine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":289863,"name":"Atypical glycine encephalopathy","type":"Clinical subtype"},{"orpha":289860,"name":"Infantile glycine encephalopathy","type":"Clinical subtype"},{"orpha":289857,"name":"Neonatal glycine encephalopathy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":289857,"name":"Neonatal glycine encephalopathy"}},{"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"],"via":{"orpha":289860,"name":"Infantile glycine encephalopathy"}},{"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"],"via":{"orpha":289863,"name":"Atypical glycine encephalopathy"}},{"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"],"via":{"orpha":289857,"name":"Neonatal glycine encephalopathy"}},{"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"],"via":{"orpha":289860,"name":"Infantile glycine encephalopathy"}},{"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"],"via":{"orpha":289863,"name":"Atypical glycine encephalopathy"}},{"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"],"via":{"orpha":289857,"name":"Neonatal glycine encephalopathy"}},{"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"],"via":{"orpha":289860,"name":"Infantile glycine encephalopathy"}},{"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"],"via":{"orpha":289863,"name":"Atypical glycine encephalopathy"}},{"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"],"via":{"orpha":289860,"name":"Infantile glycine encephalopathy"}},{"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":"27773429[PMID]","hgnc":"11056","ensembl":"ENSG00000196517","omim":"601019","loci":["1p34.1"],"via":{"orpha":289863,"name":"Atypical glycine encephalopathy"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Europe","status":"Validated","source":"European Medicines Agency 2002[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Finland","status":"Validated","source":"20301531[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.59,"area":"Canada","status":"Validated","source":"10617747[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Saudi Arabia","status":"Validated","source":"20622343[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Portugal","status":"Validated","source":"22532538[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Portugal","status":"Validated","source":"22532538[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-03","source":"23005907[PMID]","terms":[{"hpo":"HP:0012705","label":"Abnormal metabolic brain imaging by MRS","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010851","label":"EEG with burst suppression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002154","label":"Hyperglycinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100247","label":"Recurrent singultus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005957","label":"Breathing dysregulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005972","label":"Respiratory acidosis","frequency":"Frequent (79-30%)","criteria":null}]}}