{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T16:20:33Z","timestamp":1791908433904,"version":"4.3.4"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,7]],"date-time":"2019-03-07T00:00:00Z","timestamp":1551916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["T32 GM07526\u201041"],"award-info":[{"award-number":["T32 GM07526\u201041"]}],"id":[{"id":"10.13039\/100000009","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":[[2019,5]]},"abstract":"<jats:p>Short chain enoyl\u2010CoA hydratase (SCEH) deficiency leads to a severe form of autosomal recessive Leigh syndrome with inevitable neurological decline and early mortality. SCEH is most notably involved in valine catabolism, a deficiency of which results in various metabolic alterations, including increased levels of the highly reactive metabolite 2\u2010methacrylyl\u2010CoA. With no proven treatments available to date, it has been speculated that patients may respond to a valine restricted diet and\/or <jats:italic>N<\/jats:italic>\u2010acetylcysteine supplementation, as suggested by early studies of a very similar inborn error of metabolism, 3\u2010hydroxyisobutyryl\u2010CoA hydrolase deficiency. We describe a patient with typical Leigh syndrome clinical findings and identified compound heterozygous variants in <jats:italic>ECSH1<\/jats:italic>. Valine\u2010restricted diet was initiated at 6 months of age and <jats:italic>N<\/jats:italic>\u2010acetylcysteine supplementation at 9 months with subsequent improvement in growth and slow progress in developmental milestones. However, at 15\u2009months, the patient aspirated during a breakthrough seizure from which he did not recover and died soon after from related complications. This report highlights some of the challenges that remain in the management and treatment of SCEH deficiency, while demonstrating that a valine restricted diet and <jats:italic>N<\/jats:italic>\u2010acetylcysteine can be safely administered with the potential for clinical improvement.<\/jats:p>","DOI":"10.1002\/ajmg.a.61074","type":"journal-article","created":{"date-parts":[[2019,3,8]],"date-time":"2019-03-08T06:55:11Z","timestamp":1552028111000},"page":"803-807","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short\u2010chain enoyl\u2010CoA hydratase deficiency"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4657-6454","authenticated-orcid":false,"given":"Brian J.","family":"Shayota","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0257-3684","authenticated-orcid":false,"given":"Claudia","family":"Soler\u2010Alfonso","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mir Reza","family":"Bekheirnia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"},{"name":"Department of Pediatrics Renal Section, Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Mizerik","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzy W.","family":"Boyer","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Baylor Genetics  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Baylor Genetics  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1400-8519","authenticated-orcid":false,"given":"Sarah H.","family":"Elsea","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Baylor Genetics  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"},{"name":"BCM\u2010CUHK Center of Medical Genetics, Prince of Wales Hospital  Sha Tin Hong Kong SAR"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"22353","DOI":"10.1016\/S0021-9258(18)41535-9","article-title":"Identification of the essential cysteine residue in the active site of bovine pyruvate dehydrogenase","volume":"268","author":"Ali M. 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