{"orpha":505208,"name":"3-methylglutaconic aciduria type 8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MGA8"],"definition":"A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-505208/","orphanet_url":"https://www.orpha.net/en/disease/detail/505208","names":{"fr":{"name":"Acidurie 3-méthylglutaconique type 8","synonyms":["AMG8","MGA8"],"definition":"Acidurie organique rare caractérisée par une hypotonie néonatale, des épisodes apnéiques récurrents, un retard de développement psychomoteur, des difficultés à s'alimenter, des symptômes extrapyramidaux et des crises convulsives. Les autres signes cliniques rapportés sont une microcéphalie, une surdité de perception, une bradycardie et une neutropénie. Les analyses urinaires révèlent un taux de lactate sérique élevé et une forte excrétion de l'acide 3-méthylglutaconique. L'imagerie cérébrale peut révéler une atrophie cérébrale progressive. La maladie est fatale au cours de la petite enfance."},"de":{"name":"3-Methylglutaconazidurie Typ 8","synonyms":["MGA8"],"definition":"Eine seltene organische Azidurie, die sich bei Neugeborenen durch Hypotonie, wiederkehrende apnoische Episoden, mangelnde psychomotorische Entwicklung, Fütterungsschwierigkeiten, extrapyramidale Anzeichen und Krampfanfälle auszeichnet. Zu den weiteren berichteten Merkmalen gehören Mikrozephalie, sensorineurale Taubheit, Bradykardie und Neutropenie. Laboruntersuchungen zeigen erhöhte Serumlaktatwerte und eine erhöhte Ausscheidung von 3-Methylglutaconsäure im Urin. Die Bildgebung des Gehirns kann eine fortschreitende zerebrale Atrophie aufzeigen. Die Krankheit verläuft im Säuglingsalter tödlich."},"es":{"name":"Aciduria 3-metilglutacónica tipo 8","synonyms":["MGA8"],"definition":"Es una aciduria orgánica poco frecuente caracterizada por el inicio neonatal de hipotonía, episodios apnéicos recurrentes, ausencia del desarrollo psicomotor, dificultades en la alimentación, signos extrapiramidales y crisis epilépticas. Otros hallazgos adicionales descritos incluyen microcefalia, sordera neurosensorial, bradicardia y neutropenia. Las pruebas de laboratorio muestran un aumento de los niveles de lactato sérico y de la excreción urinaria de ácido 3-metilglutacónico. La neuroimagen puede revelar una atrofia cerebral progresiva. La enfermedad es letal en la lactancia."},"it":{"name":"Aciduria 3-metilglutaconica tipo 8","definition":"Si tratta di un'aciduria organica rara, che esordisce nel periodo neonatale con ipotonia, apnee ricorrenti, mancato sviluppo psicomotorio, difficoltà di alimentazione, segni extrapiramidali e crisi epilettiche. I pazienti possono presentare anche microcefalia, sordità neurosensoriale, bradicardia e neutropenia. Gli esami di laboratorio evidenziano un aumento del lattato nel siero e dell'acido 3-metilglutaconico nelle urine. Le neuroimmagini evidenziano un'atrofia cerebrale progressiva. La malattia è letale nella prima infanzia."},"nl":{"name":"3-methylglutaconacidurie type 8","synonyms":["MGA8"],"definition":"Een zeldzame organische acidurie, gekarakteriseerd door neonatale aanvang van hypotonie, recidiverende episodes van apneu, gebrek aan psychomotorische ontwikkeling, voedingsproblemen, extrapiramidale verschijnselen, en insulten. Overige kenmerken die werden gerapporteerd, zijn onder meer microcefalie, sensorineurale doofheid, bradycardie, en neutropenie. Laboratoriumonderzoek toont verhoogd gehalte van lactaat in serum en verhoogde excretie van 3-methylglutaconzuur in urine. Beeldvorming van hersenen toont mogelijk progressieve cerebrale atrofie. De ziekte is letaal in de zuigelingentijd."},"pt":{"name":"Acidúria 3-metilglutacónica tipo 8"},"pl":{"name":"Kwasica 3-metyloglutakonowa typ 8","synonyms":["MGA8"]},"cs":{"name":"3-metylglutakonová acidurie, typ 8","synonyms":["MGA8"]},"uk":{"name":"3-метилглутаконова ацидурія, тип 8","synonyms":["MGA8"],"definition":"A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy."},"zh":{"name":"3-甲基戊二酸尿症8型","synonyms":["MGA8"]},"tr":{"name":"3-metilglutakonik asidüri tip 8","synonyms":["MGA8"]}},"xrefs":[{"source":"OMIM","code":"617248","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},{"source":"MONDO","code":"0044723","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":289902,"name":"3-methylglutaconic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HTRA2","name":"HtrA serine peptidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27208207[PMID]_27696117[PMID]","hgnc":"14348","ensembl":"ENSG00000115317","omim":"606441","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"27208207[PMID]_27696117[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27208207[PMID]_27696117[PMID]"}],"phenotypes":null}