{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:51:05Z","timestamp":1747198265075,"version":"3.40.5"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n MEGDHEL [3-methylglutaconic aciduria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like disease (L)] syndrome is an autosomal recessive disorder caused by mutations in the serine active site-containing protein 1 (SERAC1<\/jats:italic>) gene. MEGDHEL syndrome is clinically characterized by sensorineural hearing loss, encephalopathy, hepatopathy, 3-methylglutaconic aciduria, and Leigh-like lesions on cranial magnetic resonance imaging. During the\u00a0neonatal period, it has been reported to present with hypoglycemia, hyperammonemia, impaired liver functions, cholestasis, metabolic acidosis, and sepsis-like clinical findings. However, clinical findings in the neonatal period were reported as a result of the retrospective evaluation of patients diagnosed at an older age. Herein we reported two cases diagnosed as MEGDHEL syndrome during neonatal period in two different clinics with sepsis-like findings, impaired liver functions, and ammonia levels high enough to\u00a0require dialysis.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n One of the cases was born 37\u00a0weeks of gestation with a birth weight of 2,060\u00a0g and initially presented with respiratory distress and feeding difficulties. The other\u00a0case admitted to the neonatal intensive care unit had\u00a0fed\u00a0problems together with respiratory distress and circulatory failure within the first 24\u00a0h after initiation of parenteral nutrition.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n MEGDHEL syndrome should be suspected in patients with sepsis-like clinical features and hyperammonemia.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2022-0418","type":"journal-article","created":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T03:14:31Z","timestamp":1671074071000},"source":"Crossref","is-referenced-by-count":2,"title":["Two cases of MEGDHEL syndrome diagnosed with hyperammonemia"],"prefix":"10.1515","volume":"0","author":[{"given":"G\u00fclhan Karakaya","family":"Molla","sequence":"first","affiliation":[{"name":"Division of Pediatric Metabolism , Faculty of Medicine, Kocaeli University , \u0130zmit , Kocaeli , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehtap","family":"Ka\u011fn\u0131c\u0131","sequence":"additional","affiliation":[{"name":"Antalya Training and Research Hospital, Pediatric Metabolism Clinic , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayla","family":"G\u00fcnlemez","sequence":"additional","affiliation":[{"name":"Division of Neonatalogy , Faculty of Medicine, Kocaeli University , \u0130zmit , Kocaeli , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya\u015far","family":"Yeni","sequence":"additional","affiliation":[{"name":"Antalya Training and Research Hospital, Neonatal \u0130ntensive Care , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7937-7721","authenticated-orcid":false,"given":"\u00d6zlem","family":"\u00dcnal Uzun","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism , Faculty of Medicine, Kocaeli University , \u0130zmit , Kocaeli , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,12,15]]},"reference":[{"key":"2022121503142431053_j_jpem-2022-0418_ref_001","doi-asserted-by":"crossref","unstructured":"Radha Rama Devi, A, Lingappa, L. Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. Eur J Med Genet 2018;61:100\u20133. https:\/\/doi.org\/10.1016\/j.ejmg.2017.07.013.","DOI":"10.1016\/j.ejmg.2017.07.013"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_002","doi-asserted-by":"crossref","unstructured":"Finsterer, J, Scorza, FA, Fiorini, AC, Scorza, CA. MEGDEL syndrome. Pediatr Neurol 2020;110:25\u20139. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2020.03.009.","DOI":"10.1016\/j.pediatrneurol.2020.03.009"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_003","doi-asserted-by":"crossref","unstructured":"Sequeira, S, Rodrigues, M, Jacinto, S, Wevers, RA, Wortman, SB. MEGDEL syndrome: expanding the phenotype and new mutations. Neuropediatrics 2017;48:382\u20134. https:\/\/doi.org\/10.1055\/s-0037-1602833.","DOI":"10.1055\/s-0037-1602833"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_004","doi-asserted-by":"crossref","unstructured":"Fellman, V, Banerjee, R, Lin, KL, Ilari, P, Helen, C, Henna, T, et al.. Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1. Biochim Biophys Acta, Mol Basis Dis 2022;1868:166298. https:\/\/doi.org\/10.1016\/j.bbadis.2021.166298.","DOI":"10.1016\/j.bbadis.2021.166298"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_005","doi-asserted-by":"crossref","unstructured":"Wortmann, SB, Vaz, FM, Gardeitchik, T, Vissers, LE, Renkema, GH, Schuurs-Hoeijmakers, et al.. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 2012;44:797\u2013802. https:\/\/doi.org\/10.1038\/ng.2325.","DOI":"10.1038\/ng.2325"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_006","doi-asserted-by":"crossref","unstructured":"Maas, RR, Iwanicka-Pronicka, K, Kalkan Ucar, S, Alhaddad, B, AlSayed, M, Al-Owain, MA, et al.. Progressive deafness-dystonia due to SERAC1\u00a0mutations: a study of 67 cases. Ann Neurol 2017;82:1004\u201315. https:\/\/doi.org\/10.1002\/ana.25110.","DOI":"10.1002\/ana.25110"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_007","doi-asserted-by":"crossref","unstructured":"Dweikat, IM, Abdelrazeq, S, Ayesh, S, Jundi, T. MEGDEL syndrome in a child from Palestine: report of a novel mutation in SERAC1 gene. J Child Neurol 2015;30:1053\u20136. https:\/\/doi.org\/10.1177\/0883073814541474.","DOI":"10.1177\/0883073814541474"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_008","doi-asserted-by":"crossref","unstructured":"Cavagnaro Santa Mar\u00eda, F, Roque Espinosa, J, Guerra Hern\u00e1ndez, P. Continuous venovenous hemofiltration in neonates with hyperammonemia. A case series. Rev Chil Pediatr 2018;89:74\u20138. https:\/\/doi.org\/10.4067\/s0370-41062018000100074.","DOI":"10.4067\/S0370-41062018000100074"},{"key":"2022121503142431053_j_jpem-2022-0418_ref_009","doi-asserted-by":"crossref","unstructured":"Markham, C, Williams, C, Miller, C, Grange, DK, Davis, TK, Remy, KE. Continuous renal replacement therapy for two neonates with hyperammonemia. Front Pediatr 2021;5:732354. https:\/\/doi.org\/10.3389\/fped.2021.732354.","DOI":"10.3389\/fped.2021.732354"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0418\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0418\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T03:14:44Z","timestamp":1671074084000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0418\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,15]]},"references-count":9,"journal-issue":{"issue":"0","published-online":{"date-parts":[[2022,12,15]]}},"alternative-id":["10.1515\/jpem-2022-0418"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0418","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2022,12,15]]}}}