{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T06:22:53Z","timestamp":1769408573446,"version":"3.49.0"},"reference-count":17,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100003141","name":"CONAHCYT","doi-asserted-by":"crossref","award":["2022-000002-01NACF-00427"],"award-info":[{"award-number":["2022-000002-01NACF-00427"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Sage Open Medical Case Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by biallelic pathogenic variants in\n                    <jats:italic toggle=\"yes\">ETHE1<\/jats:italic>\n                    , the gene encoding mitochondrial persulfide dioxygenase, an enzyme crucial for hydrogen sulfide (H\n                    <jats:sub>2<\/jats:sub>\n                    S) detoxification. Loss of this enzyme results in H\n                    <jats:sub>2<\/jats:sub>\n                    S accumulation, cytochrome c oxidase inhibition, oxidative stress, and disrupted energy metabolism. Clinically, ethylmalonic encephalopathy manifests during early infancy with developmental delay, hypotonia, progressive encephalopathy, seizures, chronic diarrhea, and microvascular abnormalities such as petechiae and acrocyanosis. Fewer than 100 cases have been reported globally, mostly among Mediterranean and Arab populations, with scarce data from Latin America. We report the first documented case of ethylmalonic encephalopathy in a Mexican patient. The affected male infant, born to healthy nonconsanguineous parents of indigenous Maya origin from Yucat\u00e1n, presented at 2\u2009weeks of age with persistent hemorrhagic diarrhea, followed by metabolic acidosis, hyperammonemia, hyperlactatemia, elevated C4-acylcarnitine, and increased urinary ethylmalonic acid. Neurological findings included developmental delay, hypotonia, and myoclonic epilepsy. Whole-exome sequencing revealed a homozygous frameshift pathogenic variant in ETHE1 (NM_014297.5):c.19_20dup (p.Val8Glyfs*7), predicted to introduce a premature stop codon and abolish protein function. Despite targeted interventions\u2014antiepileptic therapy, ammonia-lowering treatment, and metabolic support\u2014the patient\u2019s condition progressively worsened, culminating in death at 15\u2009months after metabolic decompensation and brain death. This case broadens the known mutational spectrum of\n                    <jats:italic toggle=\"yes\">ETHE1<\/jats:italic>\n                    by identifying a previously unreported pathogenic variant and underscores the need to include ethylmalonic encephalopathy in the differential diagnosis of infants presenting with chronic diarrhea, vascular lesions, and neurological deterioration, even in regions where the condition is not typically observed.\n                  <\/jats:p>","DOI":"10.1177\/2050313x251412221","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T13:21:51Z","timestamp":1768396911000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report"],"prefix":"10.1177","volume":"14","author":[{"given":"Delmer-Alejandro","family":"Ruiz-Martinez","sequence":"first","affiliation":[{"name":"School of Medical Sciences, Marista University, Merida, YUC, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio-Rodrigo","family":"Vega-Peniche","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Marista University, Merida, YUC, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yazmin","family":"Qui\u00f1onez-Pacheco","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yucatan Health Services, General Hospital \u201cDr. Agustin O\u2019Horan\u201d, Merida, YUC, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo","family":"Laviada-Molina","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n en Salud Basada en Evidencia, Marista University, Merida, YUC, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8676-2263","authenticated-orcid":false,"given":"Carlos-Alejandro","family":"Medina-Campos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yucatan Health Services, General Hospital \u201cDr. Agustin O\u2019Horan\u201d, Merida, YUC, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9332-0289","authenticated-orcid":false,"given":"Felix-Julian","family":"Campos-Garcia","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yucatan Health Services, General Hospital \u201cDr. Agustin O\u2019Horan\u201d, Merida, YUC, Mexico"},{"name":"Doctoral Program in Medical Sciences, National Autonomous University of Mexico, Mexico"},{"name":"Research Department, Instituto Mexicano del Seguro Social, UMAE Yucatan, Merida, YUC, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,1,14]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1907"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100641"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12013-023-01161-0"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10571-020-00976-2"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-016-0959-0"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00341"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009144"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.05.051"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nrl.2021.01.004"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1740370"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01867-5"},{"key":"e_1_3_2_13_2","article-title":"Ethylmalonic encephalopathy masquerading as meningococcemia","volume":"8","author":"Horton A","year":"2022","unstructured":"Horton A, Hong KM, Pandithan D, et al. Ethylmalonic encephalopathy masquerading as meningococcemia. Cold Spring Harb Mol Case Stud 2022; 8: a006193.","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63176"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/cns.14072"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-023-06904-8"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2188"},{"key":"e_1_3_2_18_2","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Di Meo I","year":"2017","unstructured":"Di Meo I, Lamperti C, Tiranti V. Ethylmalonic encephalopathy. In: Adam MP, Bick S, Mirzaa GM, et al. (eds.) GeneReviews\u00ae. University of Washington, Seattle, 2017, pp.1993\u20132025."}],"container-title":["Sage Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251412221","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X251412221","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251412221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T19:39:02Z","timestamp":1769369942000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X251412221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":17,"alternative-id":["10.1177\/2050313X251412221"],"URL":"https:\/\/doi.org\/10.1177\/2050313x251412221","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"article-number":"2050313X251412221"}}