{"orpha":217371,"name":"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins"],"definition":"A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217371/","orphanet_url":"https://www.orpha.net/en/disease/detail/217371","names":{"fr":{"name":"Insuffisance hépatique infantile aiguë par défaut de synthèse des protéines codées par l'ADNmt","synonyms":["Insuffisance hépatique infantile aiguë par défaut de synthèse des protéines codées par l'ADN mitochondrial"],"definition":"Rare déficit de la chaîne respiratoire mitochondriale dû à un déficit du gène <i>TRMU</i> entraînant un défaut de synthèse des ARNt mitochondriaux et caractérisé sur le plan clinique par des épisodes transitoires, mais engageant le pronostic vital, d'insuffisance hépatique aiguë."},"de":{"name":"Akutes infantiles Leberversagen durch Synthesedefekt mtDNA-kodierter Proteine","synonyms":["Leberversagen, infantiles, transientes","Transientes Leberversagen im Kindesalter durch TRMU-Defizienz","Transientes infantiles Leberversagen-Syndrom"],"definition":"Ein seltener mitochondrialer Atmungskettendefekt aufgrund eines TRMU-Mangels, der zu einem mitochondrialen tRNA-Synthesedefekt führt und klinisch durch vorübergehende, aber lebensbedrohliche Episoden akuten Leberversagens gekennzeichnet ist."},"es":{"name":"Insuficiencia hepática infantil aguda por un defecto de síntesis de las proteínas codificadas por el ADNmt","synonyms":["Fallo hepático infantil agudo por un defecto de síntesis de las proteínas codificadas por el ADN mitocondrial","Fallo hepático infantil agudo por un defecto de síntesis de las proteínas codificadas por el ADNm","Insuficiencia hepática infantil aguda por un defecto de síntesis de las proteínas codificadas por el ADN mitocondrial"],"definition":"Es una deficiencia poco frecuente de la cadena respiratoria mitocondrial debida al déficit de TRMU, que conduce a un defecto en la síntesis de ARNt mitocondrial y que está caracterizada clínicamente por episodios de insuficiencia hepática aguda, transitorios pero potencialmente mortales."},"it":{"name":"Insufficienza epatica infantile acuta da difetto della sintesi delle proteine codificate da mtDNA","synonyms":["Insufficienza epatica infantile acuta da difetto della sintesi delle proteine codificate dal DNA mitocondriale"],"definition":"Si tratta di un deficit raro della catena respiratoria mitocondriale, causato dal deficit di TRMU, che comporta un difetto della sintesi del tRNA mitocondriale. Dal punto di vista clinico, la malattia è caratterizzata da episodi transitori, ma potenzialmente letali, di insufficienza epatica acuta."},"nl":{"name":"Acuut infantiel leverfalen door synthesedefect van mtDNA-gecodeerde proteïnen","synonyms":["Acuut infantiel leverfalen door synthesedefect van mitochondriaal DNA-gecodeerde proteïnen","Infantiel leverfalen, transient"],"definition":"Een zeldzame deficiëntie van mitochondriale ademhalingsketen door deficiëntie van TRMU die leidt tot defecte mitochondriale tRNA-synthese, klinisch gekenmerkt door transiënte maar levensbedreigende episodes van acuut leverfalen."},"pt":{"name":"Insuficiência hepática aguda da infância por defeito na síntese de proteínas codificadas pelo ADNmt","synonyms":["Insuficiência hepática aguda da infância por defeito das proteínas codificadas por ADN mitocondrial"],"definition":"Deficiência da cadeia respiratória mitocondrial, rara, devido à deficiência de TRMU o que origina um defeito na síntese de tRNA mitocondrial e caracteriza-se clinicamente por episódios de insuficiência hepática aguda transitória, mas com risco de vida associado."},"pl":{"name":"Ostra dziecięca niewydolność wątroby z powodu defektu syntezy białek kodowanych przez mtDNA","synonyms":["Ostra dziecięca niewydolność wątroby z powodu defektu syntezy białek kodowanych przez mitochondrialne DNA"]},"cs":{"name":"Akutní infantilní selhání jater v důsledku defektu syntézy mtDNA kódovaných proteinů","synonyms":["Akutní infantilní selhání jater v důsledku defektu syntézy mitochondriálních DNA kódovaných proteinů"]},"uk":{"name":"Гостра дитяча печінкова недостатність внаслідок дефекту синтезу білків, що кодуються мтДНК","synonyms":["Гостра дитяча печінкова недостатність внаслідок дефекту синтезу мітохондріальних ДНК-кодованих білків"],"definition":"A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes."},"zh":{"name":"mtDNA编码蛋白合成缺陷所致急性婴儿肝功能衰竭","synonyms":["线粒体DNA编码蛋白合成缺陷所致急性婴儿肝功能衰竭"],"definition":"一种非常罕见的线粒体呼吸链缺陷，临床表现为短暂但危及生命的肝衰竭，伴有肝酶升高、黄疸、呕吐、凝血病、高胆红素血症和乳酸血症。"},"tr":{"name":"MtDNA ile kodlanmış proteinlerin sentez defektine bağlı akut infantil karaciğer yetmezliği","synonyms":["Mitokondriyal DNA ile kodlanmış proteinlerin sentez defektine bağlı akut infantil karaciğer yetmezliği"]}},"xrefs":[{"source":"OMIM","code":"613070","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.23","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"421161121"},{"source":"MONDO","code":"13111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304057","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10593","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"TRMU","name":"tRNA mitochondrial 2-thiouridylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19732863[PMID]","hgnc":"25481","ensembl":"ENSG00000100416","omim":"610230","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"33365252[PMID]_ 33485800[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}