{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T13:45:03Z","timestamp":1761486303205,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T00:00:00Z","timestamp":1656892800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>MEGD(H)EL syndrome is a rare autosomal recessive disorder caused by mutations in <jats:italic>SERAC1<\/jats:italic>, a protein necessary for phosphatidylglycerol remodeling. It is characterized by 3\u2010methylglutaconic aciduria, deafness\u2010dystonia, (hepatopathy), encephalopathy, and Leigh\u2010like syndrome, but has a wide spectrum of severity. Here, we present a case of a child with MEGD(H)EL syndrome with infantile hepatopathy, neurodevelopmental delays, characteristic biochemical abnormalities, and biallelic novel <jats:italic>SERAC1<\/jats:italic> mutations: (1) deletion of (at least) exons 2\u20134, pathogenic; and (2) c.1601A&gt;T (p.H534L), likely pathogenic. Her initial clinical presentation was notable for persistently elevated transaminases, speech delay, delayed motor milestones, and sensorineural hearing loss. However, her verbal and motor development has progressively improved and now, at 4\u2009years of age, she has only speech and mild gross motor delays as compared to her unaffected peers and is exceeding clinical expectations. The histologic features of a liver biopsy are described, which has not previously been published in detail for this syndrome. Hepatocytes showed granular cytoplasm and fine intracytoplasmic lipid droplets. The ultrastructural findings included abnormal circular mitochondrial cristae. These findings are consistent with a mitochondrial disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.62886","type":"journal-article","created":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T09:13:57Z","timestamp":1656926037000},"page":"2760-2765","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hepatic histologic findings in a case of <scp>MEGDHEL<\/scp> syndrome due to <scp><i>SERAC1<\/i><\/scp> deficiency"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3900-416X","authenticated-orcid":false,"given":"Lisa","family":"Yuen","sequence":"first","affiliation":[{"name":"Department of Pathology Massachusetts General Hospital  Boston Massachusetts USA"},{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inderneel","family":"Sahai","sequence":"additional","affiliation":[{"name":"Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Medical Genetics and Metabolism Massachusetts General Hospital for Children  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6721-4191","authenticated-orcid":false,"given":"Lauren","family":"O'Grady","sequence":"additional","affiliation":[{"name":"Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Medical Genetics and Metabolism Massachusetts General Hospital for Children  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Selig","sequence":"additional","affiliation":[{"name":"Department of Pathology Massachusetts General Hospital  Boston Massachusetts USA"},{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7423-9538","authenticated-orcid":false,"given":"Melissa Anne","family":"Walker","sequence":"additional","affiliation":[{"name":"Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uzma","family":"Shah","sequence":"additional","affiliation":[{"name":"Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Pediatric Gastroenterology Massachusetts General Hospital for Children  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Misdraji","sequence":"additional","affiliation":[{"name":"Department of Pathology Yale University  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,4]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22358"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn112140-20210202-00094"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25110"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104622"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36059"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.815"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12190"},{"volume-title":"ERAC1 deficiency. GeneReviews\u00ae","year":"2014","author":"Wortmann S. 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