{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T06:18:14Z","timestamp":1780121894121,"version":"3.54.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,6]]},"abstract":"Abstract<\/jats:title>Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1<\/jats:italic> leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report, we describe a patient with only mild speech and gross motor delays, subtle biochemical abnormalities, and normal brain imaging found to be homozygous for a pathogenic ETHE1<\/jats:italic> variant (c.586G>A) via whole exome sequencing. This case highlights the clinical heterogeneity of ETHE1<\/jats:italic> mutations and the utility of whole\u2010exome sequencing in diagnosing mild cases of EE.<\/jats:p>","DOI":"10.1002\/ajmg.a.63176","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T08:23:39Z","timestamp":1678350219000},"page":"1614-1618","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1<\/i><\/scp> variant"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7203-0079","authenticated-orcid":false,"given":"Daniel T.","family":"Kashima","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics University of Michigan Medical School Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina M.","family":"Sloan\u2010Heggen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics University of Michigan Medical School Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel J.","family":"Gottlieb\u2010Smith","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics University of Michigan Medical School Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Barone Pritchard","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics University of Michigan Medical School Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92338-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2020.00341"},{"key":"e_1_2_7_4_1","volume-title":"GeneReviews","author":"Meo I.","year":"2017"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.05.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100641"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2005.10.005"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2018_136"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738211006507"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058271"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.61104"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.05.051"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036210"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1907"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a011437"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63176","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63176","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63176","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T20:10:11Z","timestamp":1692648611000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,9]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/ajmg.a.63176"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63176","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,9]]},"assertion":[{"value":"2023-01-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}