{"orpha":401862,"name":"Lipoyl transferase 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401862/","orphanet_url":"https://www.orpha.net/en/disease/detail/401862","names":{"fr":{"name":"Déficit en lipoyl transférase 1","definition":"Erreur innée du métabolisme rare, au phénotype très variable, généralement caractérisée par l'apparition néonatale ou pendant la petite enfance de crises convulsives, d'un retard psychomoteur et d'une anomalie du tonus musculaire qui peut inclure une hypotonie et/ou une hypertonie, entraînant une faiblesse généralisée, des mouvements dystoniques et/ou une détresse respiratoire progressive associés à une acidose lactique sévère et à des taux élevés de lactate, de cétoglutarate et d'2-oxoacides dans les urines. Les autres manifestations peuvent inclure déshydratation, vomissements, signes de dysfonctionnement hépatique, signes d'atteinte extrapyramidale, tétraparésie spastique, réflexes tendineux profonds et vifs, troubles de la parole, troubles de la déglutition et hypertension pulmonaire."},"de":{"name":"Lipoyl-Transferase 1-Mangel"},"es":{"name":"Deficiencia de lipoil transferasa 1","definition":"La deficiencia de lipoil transferasa 1 es un error innato del metabolismo muy poco frecuente con un fenotipo muy variable. Está caracterizado típicamente por convulsiones de inicio neonatal o durante el periodo de lactancia, retraso psicomotor y tono muscular anómalo que puede incluir hipo- e/o hipertonía y que resulta en debilidad generalizada, movimientos distónicos y/o dificultad respiratoria progresiva asociada a acidosis láctica grave y aumento en orina del lactato, cetoglutarato y 2-oxoácidos. Otras manifestaciones adicionales pueden incluir deshidratación, vómitos, signos de disfunción hepática, signos extrapiramidales, tetraparesia espástica, reflejos tendinosos profundos vivos, trastorno del habla, dificultades para tragar e hipertensión pulmonar."},"it":{"name":"Deficit di lipoil transferasi 1","definition":"Il deficit di lipoil transferasi 1 è un errore congenito molto raro del metabolismo, caratterizzato da un quadro clinico variabile, che di solito comprende le crisi epilettiche che esordiscono nel periodo neonatale o nella prima infanzia, il ritardo psicomotorio, e le anomalie del tono muscolare, con ipo- e/o ipertonia, che esitano nella debolezza generalizzata, nei movimenti distonici e/o nel distress respiratorio progressivo. I pazienti presentano acidosi lattica grave e livelli elevati di lattato, chetoglutarato e 2-ossoacidi nelle urine. Altri segni clinici sono la disidratazione, il vomito, i sintomi della disfunzione epatica, i segni extrapiramidali, la tetraparesi spastica, la velocizzazione dei riflessi tendinei profondi, i deficit del linguaggio, le difficoltà nella deglutizione e l'ipertensione polmonare."},"nl":{"name":"Lipoyltransferase 1-deficiëntie","definition":"Lipoyltransferase 1-deficiëntie is een zeer zeldzame aangeboren stofwisselingsziekte met een hoogst variabel fenotype, en wordt doorgaans gekarakteriseerd door neonatale tot infantiele aanvang van insulten, psychomotorische achterstand, en abnormale spiertonus, mogelijk met hypo- en/of hypertonie, wat leidt tot gegeneraliseerde zwakte, dystonische bewegingen, en/of progressieve ademnood, geassocieerd met ernstige lactaatacidose en verhoogde gehaltes van lactaat, ketoglutaraat en 2-oxozuren in de urine. Mogelijke bijkomende manifestaties zijn onder meer dehydratie, braken, tekenen van leverdisfunctie, extrapiramidale tekenen, spastische tetraparese, snelle diepe peesreflexen, spraakstoornis, moeilijkheden met slikken, en pulmonale hypertensie."},"pt":{"name":"Défice de lipoil transferase 1"},"pl":{"name":"Niedobór transferazy liponowej 1","definition":"*Niedobór transferazy liponowej 1 jest bardzo rzadkim wrodzonym błędem metabolizmu, przebiegającym z wysoce zmiennym fenotypem; zwykle charakteryzuje się napadami padaczkowymi o początku w okresie noworodkowo-niemowlęcym, opóźnieniem psychoruchowym i nieprawidłowym napięciem mięśni, które może obejmować jego obniżenie lub wzmożenie, co skutkuje uogólnionym osłabieniem, ruchami dystonicznymi i/lub postępującą niewydolnością oddechową, z towarzyszącą ciężką kwasicą mleczanową i podwyższonym stężeniem mleczanów, ketoglutaranu i 2-oksokwasów w moczu. Dodatkowe objawy mogą obejmować odwodnienie, wymioty, zaburzenia funkcji wątroby, objawy pozapiramidowe, czterokończynowy niedowład spastyczny, wygórowane odruchy głębokie, zaburzenia mowy, trudności w połykaniu i nadciśnienie płucne."},"cs":{"name":"Deficit lipoyl-1- transferázy"},"uk":{"name":"Дефіцит ліпоїлтрансферази 1","definition":"A rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension."},"zh":{"name":"脂酰转移酶1缺乏症","definition":"硫辛酸合成酶缺乏症是一种非常罕见的先天性的代谢异常疾病，临床表型多样化，较特征性的表现有新生儿期货婴儿期出现的癫痫、精神发育迟缓、异常骨骼肌张力可合并/不合并肌张力低下，全身性肌无力，运动相关肌张力障碍，合并或不合并呼吸窘迫，可合并严重的乳酸性酸中毒，尿中乳酸、酮戊二酸、2-含氧酸升高。其他临床表现可能包括脱水、呕吐、肝功能异常、锥体外系症状，痉挛性四肢瘫，兴奋性腱反射，语言障碍、吞咽障碍、肺动脉高压。"},"tr":{"name":"Lipoil transferaz 1 eksikliği"}},"xrefs":[{"source":"OMIM","code":"616299","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014576","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190588","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":401854,"name":"Lipoic acid biosynthesis defect","classifications":[150,156]}],"children":[],"genes":[{"symbol":"LIPT1","name":"lipoyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24777537[PMID]","hgnc":"29569","ensembl":"ENSG00000144182","omim":"610284","loci":["2q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27247813[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27247813[PMID]"}],"phenotypes":null}