{"orpha":401859,"name":"Lipoic acid synthetase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401859/","orphanet_url":"https://www.orpha.net/en/disease/detail/401859","names":{"fr":{"name":"Déficit en acide lipoïque synthétase","definition":"Maladie neurométabolique rare caractérisée par l'apparition néonatale de crises convulsives (souvent réfractaires), d'une hypotonie musculaire, de difficultés à s'alimenter (troubles de la succion et/ou de la déglutition) et d'un retard psychomoteur léger à sévère, en association avec une hyperglycémie non cétosique révélée par l'analyse biochimique. Des problèmes respiratoires (apnée, acidose respiratoire aiguë), une léthargie, une perte d'audition, une microcéphalie, une spasticité et des signes d'atteinte pyramidale peuvent également être associés."},"de":{"name":"Liponsäure-Synthase-Mangel"},"es":{"name":"Deficiencia de ácido lipoico sintasa","definition":"La deficiencia de ácido lipoico sintasa es una enfermedad neurometabólica poco frecuente caracterizada por un inicio neonatal de convulsiones (a menudo intratables), hipotonía muscular, dificultades en la alimentación (mala succión y/o deglución) y retraso psicomotor de leve a grave, asociado a hiperglucemia no cetósica patente en los análisis bioquímicos. También se pueden asociar problemas respiratorios (apnea, acidosis respiratoria aguda), letargia, pérdida auditiva, microcefalia y espasticidad con signos piramidales."},"it":{"name":"Deficit di acido lipoico sintetasi","definition":"Il deficit di acido lipoico sintetasi è una malattia neurometabolica rara, caratterizzata da crisi epilettiche ad esordio neonatale (spesso non trattabili), ipotonia muscolare, difficoltà di alimentazione (di suzione e/o di deglutizione) e ritardo psicomotorio da lieve a grave; le analisi biochimiche evidenziano un'iperglicinemia non chetotica. Può associarsi a problemi respiratori (apnea, acidosi respiratoria acuta), letargia, sordità, microcefalia e spasticità con segni piramidali."},"nl":{"name":"Liponzuursynthasedeficiëntie","definition":"Liponzuursynthetasedeficiëntie is een zeldzame neurometabole ziekte die gekarakteriseerd wordt door neonatale aanvang van insulten (vaak onbehandelbaar), musculaire hypotonie, voedingsproblemen (slecht zuigen en/of slikken) en milde tot ernstige psychomotorische achterstand, geassocieerd met niet-ketotische hyperglycinemie die doorgaans wordt aangetoond met biochemische analyse. Ademhalingsproblemen (apneu, acute respiratoire acidose), lethargie, gehoorverlies, microcefalie en spasticiteit met piramidale tekenen kunnen ook geassocieerd zijn."},"pt":{"name":"Défice da sintetase do ácido lipóico"},"pl":{"name":"Niedobór syntetazy kwasu liponowego","definition":"*Niedobór syntetazy kwasu liponowego jest rzadką chorobą neurometaboliczną, która charakteryzuje się napadami drgawkowymi (często opornymi na leczenie) u noworodków, hipotonią mięśniową, trudnościami w karmieniu (osłabiony odruch ssania i/(lub) połykania) oraz łagodnym lub ciężkim opóźnieniem psychoruchowym, związanym z nieketotyczną hiperglicynemią, zwykle stwierdzaną w badaniu biochemicznym. Towarzyszyć mogą problemy z oddychaniem (bezdech, ostra kwasica oddechowa), nadmierna senność, niedosłuch, małogłowie i spastyczność z objawami piramidowymi."},"cs":{"name":"Deficit syntetázy kyseliny lipoové"},"uk":{"name":"Дефіцит синтетази ліпоєвої кислоти","definition":"A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated."},"zh":{"name":"硫辛酸合成酶缺乏症","definition":"硫辛酸合成酶缺乏症是一种罕见的神经代谢疾病，主要表现为新生儿期疾病的难治性癫痫，肌张力低下，喂养困难（吮吸或吞咽困难），轻到重度的精神发育迟缓，可通过生化分析检测到的非酮症性高甘氨酸血症。呼吸系统症状（窒息，急性呼吸性酸中毒），无力，听力障碍，小头畸形，也可合并椎体系相关痉挛症状。"},"tr":{"name":"Lipoik asit sentetaz eksikliği"}},"xrefs":[{"source":"OMIM","code":"614462","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":"0013762","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190587","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12678","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]},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LIAS","name":"lipoic acid synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24334290[PMID]_24777537[PMID]","hgnc":"16429","ensembl":"ENSG00000121897","omim":"607031","loci":["4p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24777537[PMID]_22152680[PMID]_24334290[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24777537[PMID]_22152680[PMID]_24334290[PMID]"}],"phenotypes":null}