{"orpha":353217,"name":"Epileptic encephalopathy with global cerebral demyelination","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AGC1 deficiency","Mitochondrial aspartate-glutamate carrier 1 deficiency"],"definition":"Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353217/","orphanet_url":"https://www.orpha.net/en/disease/detail/353217","names":{"fr":{"name":"Encéphalopathie épileptique avec démyélinisation cérébrale généralisée","synonyms":["Déficit en transporteur mitochondrial AGC1","Déficit en transporteur mitochondrial aspartate-glutamate 1"],"definition":"L'encéphalopathie épileptique avec démyélinisation cérébrale généralisée est un défaut rare du transport des substrats de la mitochondrie. Elle se caractérise par une hypotonie musculaire sévère, des convulsions (avec ou sans apnée épisodique) débutant au cours de la première année de vie, et par un arrêt du développement psychomoteur (affectant surtout les capacités motrices). Une spasticité sévère et une hyperréflexie ont aussi été rapportées. L'hypomyélination cérébrale globale est une donnée caractéristique à l'imagerie."},"de":{"name":"Epileptische Enzephalopathie mit globaler zerebraler Demyelinisierung","synonyms":["AGC1-Mangel","Mitochondrialer Aspartat-Glutamat-Carrier 1-Mangel"],"definition":"Epileptische Enzephalopathie mit globaler zerebraler Demyelinisierung ist eine seltene mitochondriale Substratträgerstörung, die durch schwere muskuläre Hypotonie, Anfälle (mit oder ohne episodische Apnoen), die im ersten Lebensjahr beginnen, und eine gestörte psychomotorische Entwicklung (die hauptsächlich motorische Fähigkeiten betrifft) gekennzeichnet ist. Schwere Spastik mit Hyperreflexie ist ebenfalls berichtet worden. Eine globale zerebrale Hypomyelinisierung ist ein charakteristisches Bildgebungsmerkmal dieser Erkrankung."},"es":{"name":"Encefalopatía epiléptica con desmielinización cerebral global","synonyms":["Deficiencia del transportador mitocondrial de aspartato-glutamato 1","Deficiencia en AGC1"],"definition":"La encefalopatía epiléptica con desmielinización cerebral generalizada es un trastorno poco frecuente de los transportadores mitocondriales caracterizado por hipotonía muscular grave, crisis (con o sin episodios de apnea) de inicio durante el primer año de vida, y detención del desarrollo psicomotor (afectando fundamentalmente a las habilidades motoras). También se ha descrito espasticidad grave con hiperreflexia. La hipomielinización cerebral generalizada es una característica de imagen distintiva de esta enfermedad."},"it":{"name":"Encefalopatia epilettica con demielinizzazione cerebrale generalizzata","synonyms":["Deficit del trasportatore mitocondriale di aspartato-glutammato 1"],"definition":"L'encefalopatia epilettica con demielinizzazione cerebrale generalizzata è una malattia rara del portatore del substrato mitocondriale, caratterizzata da grave ipotonia muscolare, crisi epilettiche (con o senza apnea episodica) che esordiscono nel primo anno di vita, con arresto dello sviluppo psicomotorio (che colpisce soprattutto le competenze motorie). Possono essere presenti anche spasticità grave e iperreflessia. La diagnostica per immagini evidenzia una caratteristica ipomielinizzazione cerebrale generalizzata."},"nl":{"name":"Epileptische encefalopathie met gegeneraliseerde cerebrale demyelinisatie","synonyms":["AGC1-deficiëntie","Mitochondriale aspartaat-glutamaattransporter 1-deficiëntie"],"definition":"Epileptische encefalopathie met globale cerebrale demyelinisatie is een zeldzame stoornis van mitochondriale substraatcarriers die wordt gekarakteriseerd door ernstige musculaire hypotonie, insulten (met of zonder periodieke apneu) die aanvangen in het eerste levensjaar, en een stilstand van de psychomotorische ontwikkeling (die vooral de motorische vaardigheden treft). Ernstige spasticiteit met hyperreflexie werd ook reeds gerapporteerd. Globale cerebrale hypomyelinisatie is een typisch kenmerk van deze ziekte bij beeldvorming."},"pt":{"name":"Défice do transportador 1 do aspartato glutamato mitocondrial"},"pl":{"name":"Encefalopatia padaczkowa z całkowitą demielinizacją mózgu","synonyms":["Niedobór mitochondialnego nośnika 1 asparaginianu-glutaminianu"]},"cs":{"name":"Epileptická encefalopatie s globální demyelinizací","synonyms":["Deficit mitochondriálního přenašeče 1 pro aspartát-glutamát"]},"uk":{"name":"Епілептична енцефалопатія з глобальною церебральною демієлінізацією","synonyms":["Дефіцит AGC1","Дефіцит мітохондріального аспартат-глутаматного переносника 1"],"definition":"Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease."},"zh":{"name":"癫痫性脑病伴全脑皮质髓鞘形成减少","synonyms":["线粒体天冬氨酸-谷氨酸载体1缺乏症"],"definition":"全脑脱髓鞘的癫痫性脑病是一种罕见的线粒体底物携带者疾病，其特征是严重的肌肉低张力，从出生第一年开始癫痫发作(有或无发作性呼吸暂停)，精神运动发育受阻(主要影响运动技能)。严重痉挛伴反射亢进也有报道。全局性脑髓鞘减退是本病的特征性影像学特征。"},"tr":{"name":"Yaygın serebral demiyelinizasyon ile seyreden epileptik ensefalopati","synonyms":["AGC1 eksikliği","Mitokondriyal aspartat-glutamat taşıyıcı 1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"612949","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1277104703"},{"source":"MONDO","code":"0013056","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":254830,"name":"Mitochondrial substrate carrier disorder","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC25A12","name":"solute carrier family 25 member 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19641205[PMID]","hgnc":"10982","ensembl":"ENSG00000115840","omim":"603667","loci":["2q31.1"]}],"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":"19641205[PMID]_24515575[PMID]_31403263[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"19641205[PMID]_24515575[PMID]_31403263[PMID]_ORPHANET"}],"phenotypes":null}