{"orpha":397593,"name":"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397593/","orphanet_url":"https://www.orpha.net/en/disease/detail/397593","names":{"fr":{"name":"Acidose lactique néonatale sévère par déficit en complexe NFS1-ISD11","definition":"Anomalie rare et héréditaire de la phosphorylation oxydative mitochondriale caractérisée par une acidose lactique néonatale sévère et un déficit en complexes mitochondriaux I, II et III. Inconstants, les signes cliniques peuvent inclure une hypotonie, une insuffisance respiratoire avec cyanose, un retard de croissance staturo-pondérale, des difficultés à s'alimenter, une hypoglycémie, une déshydratation, des vomissements, des crises convulsives et un risque accru de défaillance multiviscérale."},"de":{"name":"Schwere neonatale Laktatazidose durch NFS1-ISD11-Komplex-Mangel"},"es":{"name":"Acidosis láctica neonatal grave por deficiencia del complejo NFS1-ISD11","definition":"La acidosis láctica neonatal grave por deficiencia del complejo NFS1-ISD11 es un trastorno de la fosforilación oxidativa mitocondrial, hereditario y poco frecuente, caracterizado por acidosis láctica neonatal grave y deficiencia de los complejos mitocondriales I, II y III. Los hallazgos clínicos son variables y pueden incluir hipotonía, dificultad respiratoria con cianosis, fallo de medro, dificultades en la alimentación, hipoglucemia, deshidratación, vómitos, convulsiones y riesgo de fallo multiorgánico."},"it":{"name":"Acidosi lattica neonatale grave da deficit del complesso NFS1-ISD11","definition":"L'acidosi lattica neonatale grave da deficit del complesso NFS1-ISD11 è una malattia ereditaria rara della fosforilazione ossidativa mitocondriale, caratterizzata da acidosi lattica neonatale grave e deficit dei complessi mitocondriali I, II e III. Il quadro clinico è variabile e comprende l'ipotonia, il distress respiratorio con cianosi, il ritardo della crescita, le difficoltà di alimentazione, l'ipoglicemia, la disidratazione, il vomito, le crisi epilettiche e il rischio di insufficienza multiorgano."},"nl":{"name":"Ernstige neonatale lactaatacidose door deficiëntie van NFS1-ISD11-complex","definition":"Ernstige neonatale lactaatacidose door NFS1-ISD11-complexdeficiëntie is een zeldzame, erfelijke, mitochondriale oxidatieve fosforylatiestoornis die gekarakteriseerd wordt door ernstige neonatale lactaatacidose en deficiëntie van de mitochondriale complexen I, II en III. De klinische kenmerken zijn variabel en omvatten onder meer hypotonie, ademnood met cyanose, groeiachterstand, voedingsproblemen, hypoglycemie, dehydratie, braken, insulten, en een risico op meervoudig orgaanfalen."},"pt":{"name":"Acidose lática neonatal grave devido a défice do complexo NFS1-ISD11"},"pl":{"name":"Ciężka noworodkowa kwasica mleczanowa z powodu niedoboru kompleksu NFS1-ISD11","definition":"*Ciężka noworodkowa kwasica mleczanowa z powodu niedoboru kompleksu NFS1-ISD11 jest rzadkim, dziedzicznym zaburzeniem fosforylacji oksydacyjnej w mitochondriach, które charakteryzuje się ciężką kwasicą mleczanową noworodków oraz niedoborem kompleksów mitochondrialnych I, II i III. Objawy kliniczne są zmienne i mogą obejmować hipotonię, niewydolność oddechową z sinicą, brak prawidłowego rozwoju, trudności w karmieniu, hipoglikemię, odwodnienie, wymioty, drgawki i zwiększone ryzyko wystąpienia niewydolności wielonarządowej."},"cs":{"name":"Těžká neonatální laktátová acidóza způsobená deficitem komplexu NFS1-ISD11"},"uk":{"name":"Тяжкий неонатальний молочнокислий ацидоз, зумовлений дефіцитом комплексу NFS1-ISD11","definition":"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure."},"zh":{"name":"NFS1-ISD11复合物缺陷所致重度新生儿乳酸酸中毒","definition":"NFS1-ISD11复合体缺陷所致的新生儿严重乳酸酸中毒是一种罕见的遗传性线粒体氧化磷酸化紊乱，以新生儿严重乳酸酸中毒和线粒体复合体I、II、III缺乏为特征。本病的临床表现多种多样，可包括肌张力减低、呼吸窘迫伴青紫、生长迟滞、喂养困难、低血糖、脱水、呕吐、癫痫发作并存在多器官衰竭的风险。"},"tr":{"name":"NFS1-ISD11 kompleks eksikliğine bağlı ağır yenidoğan laktik asidoz"}},"xrefs":[{"source":"OMIM","code":"615595","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619386","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"UMLS","code":"C4750855","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]}],"children":[],"genes":[{"symbol":"LYRM4","name":"LYR motif containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23814038[PMID]","hgnc":"21365","ensembl":"ENSG00000214113","omim":"613311","loci":["6p25.1"]},{"symbol":"NFS1","name":"NFS1 cysteine desulfurase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24498631[PMID]","hgnc":"15910","ensembl":"ENSG00000244005","omim":"603485","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23814038[PMID]_24498631[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23814038[PMID]_24498631[PMID]"}],"phenotypes":null}