{"orpha":447784,"name":"Mitochondrial pyruvate carrier deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447784/","orphanet_url":"https://www.orpha.net/en/disease/detail/447784","names":{"fr":{"name":"Déficit en transporteur mitochondrial du pyruvate","definition":"Anomalie du métabolisme du pyruvate caractérisée par l'apparition néonatale d'une encéphalopathie mitochondriale associée à un retard global de développement, une acidose lactique et une pyruvicémie élevée avec un rapport lactate/pyruvate normal. Parmi les autres manifestations rapportées figurent l'épilepsie, la neuropathie périphérique, l'hypotonie, le nystagmus, des réflexes cutanés plantaires en extension, l'hépatomégalie et la dysmorphie cranio-faciale (incluant une microcéphalie progressive, un épicanthus, un philtrum long et une lèvre supérieure fine)."},"de":{"name":"Mitochondrialer Pyruvat-Carrier-Mangel","definition":"Eine seltene Störung des Pyruvatstoffwechsels, die durch eine neonatale mitochondriale Enzephalopathie mit globaler Entwicklungsverzögerung und den biochemischen Merkmalen einer Laktatazidose und eines erhöhten Pyruvatserums bei normalem Laktat/Pyruvat-Verhältnis gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören Epilepsie, periphere Neuropathie, Hypotonie, Nystagmus, plantare Streckreaktionen, Hepatomegalie und kraniofaziale Dysmorphien (wie progressive Mikrozephalie, Epikanthus, langes Philtrum und dünne Oberlippe)."},"es":{"name":"Deficiencia del transportador mitocondrial del piruvato","definition":"Es un trastorno poco frecuente del metabolismo del piruvato caracterizado por la aparición neonatal de una encefalopatía mitocondrial con retraso global del desarrollo y características bioquímicas de acidosis láctica y aumento de los niveles séricos de piruvato con una relación lactato/piruvato normal. Otras manifestaciones descritas incluyen epilepsia, neuropatía periférica, hipotonía, nistagmo, respuesta extensora del reflejo plantar, hepatomegalia y dismorfia craneofacial (como microcefalia progresiva, epicanto, filtrum largo y labio superior fino)."},"it":{"name":"Deficit del trasportatore mitocondriale del piruvato","definition":"Si tratta di una malattia rara del metabolismo del piruvato, caratterizzata da encefalopatia mitocondriale ad esordio neonatale, associata a ritardo dello sviluppo globale. Gli esami biochimici mostrano acidosi lattica e livelli elevati di piruvato nel siero con un rapporto lattato/piruvato nomale. I pazienti possono presentare anche epilessia, neuropatia periferica, ipotonia, nistagmo, risposte plantari in estensione, epatomegalia e dismorfismi craniofacciali (microcefalia progressiva, epicanto, filtro lungo e labbro superiore sottile)."},"nl":{"name":"Mitochondriale pyruvaat-carrier-deficiëntie","definition":"Een zeldzame stoornis van metabolisme van pyruvaat, gekarakteriseerd door neonatale aanvang van een mitochondriale encefalopathie met algehele ontwikkelingsachterstand en de biochemische kenmerken van lactaatacidose en verhoogd gehalte van pyruvaat in serum met normale lactaat/pyruvaat-verhouding. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer epilepsie, perifere neuropathie, hypotonie, nystagmus, voetzoolreflexen in extensie, hepatomegalie, en craniofaciale dysmorfie (zoals progressieve microcefalie, epicanthus, lang filtrum, en dunne bovenlip)."},"pt":{"name":"Défice do transportador mitocondrial do piruvato"},"pl":{"name":"Niedobór mitochondrialnego nośnika pirogronianu"},"cs":{"name":"Deficit mitochondriálního pyruvátového přenašeče"},"uk":{"name":"Дефіцит мітохондріального переносника пірувату","definition":"A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip)."},"zh":{"name":"线粒体丙酮酸载体缺乏症"},"tr":{"name":"Mitokondriyal pirüvat taşıyıcı eksikliği"}},"xrefs":[{"source":"OMIM","code":"614741","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553607","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":254746,"name":"Pyruvate metabolism disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MPC1","name":"mitochondrial pyruvate carrier 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22628558[PMID]","hgnc":"21606","ensembl":"ENSG00000060762","omim":"614738","loci":["6q27"]}],"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":"22628558[PMID]_12649063[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22628558[PMID]_12649063[PMID]"}],"phenotypes":null}