{"orpha":447795,"name":"Lipoyl transferase 2 deficiency","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447795/","orphanet_url":"https://www.orpha.net/en/disease/detail/447795","names":{"fr":{"name":"Déficit en lipoyl transférase 2","definition":"Erreur innée du métabolisme rare caractérisée par une encéphalopathie néonatale sévère avec des anomalies de l'EEG, des taux du lactate sérique élevés, un développement psychomoteur faible, voire nul, et parfois le décès dans l'enfance. L'imagerie cérébrale peut mettre en évidence une atrophie corticale, une hypertrophie des ventricules, un retard de myélinisation et des anomalies de la substance blanche, entre autres."},"de":{"name":"Lipoyl-Transferase 2-Mangel","definition":"Eine seltene angeborene Stoffwechselstörung, die durch schwere neonatale Enzephalopathie mit EEG-Anomalien, erhöhtem Serumlaktat, geringer oder fehlender psychomotorischer Entwicklung und manchmal Tod im Säuglingsalter gekennzeichnet ist. Die Bildgebung des Gehirns kann u. a. eine kortikale Atrophie, vergrößerte Ventrikel, verzögerte Myelinisierung und Anomalien der weißen Substanz zeigen."},"es":{"name":"Deficiencia de lipoil transferasa 2","definition":"Es un error congénito del metabolismo poco frecuente caracterizado por encefalopatía neonatal grave con anomalías en el EEG, aumento del lactato sérico, desarrollo psicomotor escaso o nulo y, en ocasiones, fallecimiento en la infancia. Las neuroimágenes pueden mostrar atrofia cortical, agrandamiento de los ventrículos, retraso de la mielinización y anomalías de la sustancia blanca, entre otras."},"it":{"name":"Deficit di lipoil transferasi 2"},"nl":{"name":"Lipoyltransferase 2-deficiëntie","definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door ernstige neonatale encefalopathie met EEG-afwijkingen, verhoogd lactaatgehalte in serum, weinig of geen psychomotorische ontwikkeling, en soms sterfte in de zuigelingentijd. Beeldvorming van hersenen toont mogelijk onder meer corticale atrofie, vergrote ventrikels, vertraagde myelinisatie, en afwijkingen van witte stof."},"pt":{"name":"Défice de lipoil transferase 2","definition":"Erro do metabolismo inato raro caracterizado por encefalopatia neonatal grave com anomalias no EEG, aumento do lactato sérico, pouco ou nenhum desenvolvimento psicomotor e, por vezes, morte na infância. Os exames de neuroimagem cerebral podem demonstrar atrofia cortical, ventrículos aumentados, atraso da mielinização e anomalias da substância branca, entre outros."},"pl":{"name":"Niedobór transferazy liopnianowej 2"},"cs":{"name":"Deficit lipoyl transferázy 2"},"uk":{"name":"Дефіцит ліпоїлтрансферази 2","definition":"A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others."},"zh":{"name":"脂酰转移酶2缺乏症"},"tr":{"name":"Lipoil transferaz 2 eksikliği"}},"xrefs":[{"source":"OMIM","code":"617668","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.8","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":"0018651","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681203","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":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Not yet documented","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}