{"orpha":293955,"name":"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293955/","orphanet_url":"https://www.orpha.net/en/disease/detail/293955","names":{"fr":{"name":"Encéphalopathie de l'enfant par déficit en thiamine pyrophosphokinase","definition":"Erreur innée du métabolisme rare caractérisée par l'apparition précoce d'épisodes aigus d'encéphalopathie (fréquemment déclenchés par des infections virales), associés à une acidose lactique et à une acidurie oxoglutarique, se manifestant généralement par une ataxie de degré variable, une régression généralisée du développement (avec détérioration à chaque épisode) et une dystonie. Les autres manifestations comprennent spasticité, convulsions, hypotonie du tronc, hypertonie des membres, réflexes tendineux vifs et coma réversible."},"de":{"name":"Enzephalopathie der Kindheit durch Thiamin-Pyrophosphokinase-Mangel"},"es":{"name":"Encefalopatía infantil por deficiencia de tiamina pirofosfoquinasa","definition":"La encefalopatía infantil por deficiencia de tiamina pirofosfoquinasa es un error innato del metabolismo poco frecuente caracterizado por episodios encefalopáticos agudos de inicio temprano (desencadenados, con frecuencia, por infecciones víricas). Se asocia a acidosis láctica y aciduria alfa-cetoglutárica y, por lo general, se manifiesta con diferentes grados de ataxia, regresión generalizada del desarrollo (que se deteriora en cada episodio) y distonía. Otras manifestaciones incluyen espasticidad, convulsiones, hipotonía troncal, hipertonía de las extremidades, reflejos tendinosos vivos y coma reversible."},"it":{"name":"Encefalopatia infantile da deficit di tiamina pirofosfochinasi","definition":"L'encefalopatia infantile da deficit di tiamina pirofosfochinasi è un errore congenito raro del metabolismo, caratterizzato da episodi acuti di encefalopatia ad esordio precoce (spesso scatenati dalle infezioni virali), associati ad acidosi lattica ed aciduria alfa-chetoglutarica, che di solito si manifesta con atassia di gravità variabile, regressione generalizzata dello sviluppo (che si aggrava ad ogni episodio) e distonia. Altri segni clinici sono la spasticità, le crisi epilettiche, l'ipotonia del tronco, l'ipertonia degli arti, la velocizzazione dei riflessi tendinei e il coma reversibile."},"nl":{"name":"Encefalopathie in de kindertijd door deficiëntie van thiaminepyrofosfokinase","definition":"Encefalopathie in de kindertijd door thiaminepyrofosfokinasedeficiëntie is een zeldzame aangeboren stofwisselingsziekte die gekarakteriseerd wordt door vroeg aanvangende, acute, encefalopathische episodes (frequent uitgelokt door virale infecties), die zijn geassocieerd met lactaatacidose en alfa-ketoglutaarzuuracidurie, en die zich doorgaans manifesteren met variabele gradaties van ataxie, gegeneraliseerde ontwikkelingsregressie (die bij elke episode verder aftakelt) en dystonie. Andere manifestaties zijn onder meer spasticiteit, insulten, truncale hypotonie, hypertonie van de ledematen, snelle peesreflexen en omkeerbare coma."},"pt":{"name":"Encefalopatia da infância por deficiência de tiamina pirofosfoquinase"},"pl":{"name":"Encefalopatia dziecięca z powodu niedoboru pirofosfokinazy tiaminy"},"cs":{"name":"Encefalopatie v dětství způsobená deficitem thiaminpyrofosfokinázy"},"uk":{"name":"Дитяча енцефалопатія внаслідок дефіциту тіамінпірофосфокінази","definition":"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma."},"zh":{"name":"硫胺素焦磷酸激酶缺乏所致儿童脑病","definition":"由于硫胺素焦磷酸激酶缺乏所致儿童脑病是一种罕见的先天性代谢障碍性疾病，其特征是早发性急性脑病发作（常由病毒感染引起），伴乳酸酸中毒和α-酮戊二酸尿症，常表现为不同程度的共济失调，全身发育倒退（随每次发作恶化）和肌张力障碍。其他表现包括痉挛、惊厥、躯干肌张力低下、肢体肌张力增高、肌腱反射活跃和可逆性昏迷。"},"tr":{"name":"Tiamin pirofosfokinaz eksikliğine bağlı çocukluk çağı ensefalopatisi"}},"xrefs":[{"source":"OMIM","code":"614458","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E51.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B5A.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013761","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751138","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TPK1","name":"thiamin pyrophosphokinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22152682[PMID]","hgnc":"17358","ensembl":"ENSG00000196511","omim":"606370","loci":["7q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22152682[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}