{"orpha":352328,"name":"MEGDEL syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome","3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome"],"definition":"MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352328/","orphanet_url":"https://www.orpha.net/en/disease/detail/352328","names":{"fr":{"name":"Syndrome MEGDEL","synonyms":["Syndrome Leigh-like-acidurie 3-méthylglutaconique-surdité-encéphalopathie"],"definition":"Maladie neurométabolique génétique rare caractérisée par une hypoglycémie néonatale, des signes de septicémie sans lien avec une infection, des problèmes d'alimentation, un retard de croissance staturo-pondérale, un dysfonctionnement hépatique transitoire et une hypotonie tronculaire suivie d'une dystonie et d'une spasticité entraînant un arrêt du développement et/ou une régression psychomoteurs. Une surdité neurosensorielle progressive, une déficience intellectuelle et une absence de langage sont également associées. Les examens de laboratoire révèlent une acidurie 3-méthylglutaconique et une augmentation passagère du taux de lactate sérique et des transaminases."},"de":{"name":"MEGDEL-Syndrom"},"es":{"name":"Síndrome MEGDEL","synonyms":["Síndrome de aciduria 3-metilglutacónica con hipoacusia-encefalopatía-similar a Leigh","Síndrome de aciduria 3-metilglutacónica con sordera-encefalopatía-similar a Leigh"],"definition":"Es un trastorno neurometabólico, genético y poco frecuente, caracterizado por hipoglucemia neonatal, síntomas de sepsis no vinculados a infección, desarrollo de problemas de alimentación, fallo de medro, disfunción hepática transitoria e hipotonía troncal seguida de distonía y espasticidad que ocasiona detención y/o regresión del desarrollo psicomotor. También se asocian sordera neurosensorial progresiva, discapacidad intelectual y habla ausente. Las pruebas de laboratorio demuestran aciduria 3-metilglutacónica, así como elevación temporal de los niveles de lactato sérico y transaminasas."},"it":{"name":"Sindrome MEGDEL","synonyms":["Aciduria 3-metilglutaconica con sordità - encefalopatia - sindrome Leigh-simile"],"definition":"La sindrome MEGDEL è una malattia neurometabolica genetica rara, caratterizzata da ipoglicemia neonatale, segni suggestivi di sepsi non correlati ad un'infezione, problemi di alimentazione, ritardo della crescita, disfunzione renale transitoria ed ipotonia del tronco seguita da distonia e spasticità, con conseguente arresto e/o regressione dello sviluppo psicomotorio. I pazienti presentano anche sordità neurosensoriale progressiva, disabilità intellettiva e assenza del linguaggio. Gli esami di laboratorio evidenziano aciduria 3-metilglutaconica e livelli temporaneamente elevati di lattato e transaminasi nel siero."},"nl":{"name":"MEGDEL-syndroom","synonyms":["3-methylglutaconacidurie met doofheid - encefalopathie - Leigh-achtig syndroom","3-methylglutaconacidurie met gehoorverlies - encefalopathie - Leigh-achtig syndroom"],"definition":"MEGDEL-syndroom is een zeldzame, genetische, neurometabole stoornis die gekarakteriseerd wordt door neonatale hypoglycemie, kenmerken van sepsis die niet gekoppeld zijn aan infectie, ontwikkeling van voedingsproblemen, groeiachterstand, transiënte leverdisfunctie, en truncale hypotonie gevolgd door dystonie en spasticiteit die leiden tot een arrest en/of regressie van de psychomotorische ontwikkeling. Progressieve sensorineurale doofheid, intellectuele achterstand en afwezige spraak zijn ook geassocieerd. Laboratoriumtesten tonen 3-methylglutaconacidurie en tijdelijk verhoogde gehaltes van lactaat en transaminasen in het serum."},"pt":{"name":"Síndrome MEGDEL"},"pl":{"name":"Zespół MEGDEL","synonyms":["Acyduria 3-metyloglutakonowa z głuchotą - encefalopatia -zespół podobny do zespołu Leigha"],"definition":"*Zespół MEGDEL jest rzadkim, genetycznie uwarunkowanym zaburzeniem neurometabolicznym, które charakteryzuje się hipoglikemią noworodkową, objawami sepsy niezwiązanej z infekcją, narastającymi problemami z karmieniem, brakiem prawidłowego rozwoju, przemijającą dysfunkcją wątroby i hipotonią tułowia, przechodzącą w dystonię i spastyczność, co skutkuje zatrzymaniem rozwoju psychoruchowego i/lub regresem rozwoju. Towarzyszy postępujący niedosłuch zmysłowo-nerwowy, niepełnosprawność intelektualna i brak rozwoju mowy. W badaniach laboratoryjnych obserwuje się kwasicę 3-metyloglutakonową oraz przemijające podwyższenie stężenia mleczanów i transaminaz w surowicy."},"cs":{"name":"MEGDEL syndrom","synonyms":["3-methylglutakonová acidurie s hluchotou, encefalopatii a syndromem podobným Leighovu"]},"uk":{"name":"Синдром MEGDEL","synonyms":["3-метилглутаконов аацидурія з глухотою - енцефалопатією та Лі-подібним синдромом","3-метилглутаконова ацидурія з втратою слуху-енцефалопатією та синдромом Лі"],"definition":"MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases."},"zh":{"name":"MEGDEL综合征","synonyms":["3-甲基戊烯二酸尿症伴听力丧失-脑病-Leigh样综合征"],"definition":"MEGDEL综合征是一种罕见的遗传性神经代谢紊乱，其特征是新生儿低血糖、与感染无关的败血症、出现喂养问题、生长发育迟滞、暂时性肝功能不全，以及躯干张力减退，随后出现肌张力障碍和痉挛，导致精神运动发育停止和/或退化。也可表现为进行性感音神经性耳聋、智力障碍和失语。实验室检查显示3-甲基戊二酸尿，血清乳酸和转氨酶暂时升高。"},"tr":{"name":"MEGDEL sendromu","synonyms":["Sağırlık-ensefalopati-Leigh benzeri sendromlu ile seyreden 3-metilglutakonik asidüri","İşitme kaybı-ensefalopati-Leigh benzeri sendromu ile seyreden 3-metilglutakonik asidüri"]}},"xrefs":[{"source":"OMIM","code":"614739","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013875","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4040739","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289902,"name":"3-methylglutaconic aciduria","classifications":[150,156]},{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"SERAC1","name":"serine active site containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22683713[PMID]","hgnc":"21061","ensembl":"ENSG00000122335","omim":"614725","loci":["6q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":67.0,"area":"Worldwide","status":"Validated","source":"29205472[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29205472[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-12-19","source":"40821445[PMID]_37996139[PMID]_32684373[PMID]_24741715[PMID]","terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003344","label":"3-Methylglutaric aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040140","label":"Degeneration of the striatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003146","label":"Hypocholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}