{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T04:57:45Z","timestamp":1792299465105,"version":"4.4.0"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T00:00:00Z","timestamp":1513728000000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>3\u2010Methylglutaconic aciduria, dystonia\u2013deafness, hepatopathy, encephalopathy, Leigh\u2010like syndrome (MEGDHEL) syndrome is caused by biallelic variants in <jats:italic>SERAC1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixty\u2010seven individuals (39 previously unreported) from 59 families were included (age range\u2009=\u20095 days\u201333.4 years, median age\u2009=\u20099 years). A total of 41 different <jats:italic>SERAC1<\/jats:italic> variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in &gt;40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset\u2009=\u200915 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy\u2010nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic \u201cputaminal eye\u201d was seen in 53%. The urinary marker 3\u2010methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>MEGDHEL syndrome is a progressive deafness\u2013dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004\u20131015<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.25110","type":"journal-article","created":{"date-parts":[[2017,12,5]],"date-time":"2017-12-05T10:18:51Z","timestamp":1512469131000},"page":"1004-1015","source":"Crossref","is-referenced-by-count":75,"title":["Progressive deafness\u2013dystonia due to <i>SERAC1<\/i> mutations: A study of 67 cases"],"prefix":"10.1002","volume":"82","author":[{"given":"Roeltje R.","family":"Maas","sequence":"first","affiliation":[{"name":"Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Center Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Iwanicka\u2010Pronicka","sequence":"additional","affiliation":[{"name":"Department of Audiology and Phoniatrics Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sema","family":"Kalkan Ucar","sequence":"additional","affiliation":[{"name":"Division of Metabolic Disease, Ege University Medical Faculty, Department of Pediatrics Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bader","family":"Alhaddad","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technische Universit\u00e4tM\u00fcnchen Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moeenaldeen","family":"AlSayed","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology College of Medicine, Alfaisal University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Al\u2010Owain","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology College of Medicine, Alfaisal University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamad I.","family":"Al\u2010Zaidan","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology College of Medicine, Alfaisal University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanti","family":"Balasubramaniam","sequence":"additional","affiliation":[{"name":"Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney New South Wales Australia"},{"name":"Discipline of Genetic Medicine &amp; 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