{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:39:38Z","timestamp":1790962778608,"version":"4.1.0"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Short-chain enoyl-CoA hydratase (ECHS1) (OMIM 602292) deficiency is a rare autosomal recessive inborn error of metabolism caused by pathogenic variants in the\n                    <jats:italic toggle=\"yes\">ECHS1<\/jats:italic>\n                    gene. Features of encephalopathy, movement disorders, developmental delay, high lactate, seizures, and basal ganglia abnormalities were reported with this disorder. Exome sequencing is a powerful tool for the identification of Leigh-like disorders, especially in the absence of biochemical biomarkers. We describe an 11-month-old infant who presented with metabolic acidosis and developed movement disorder and was found to have elevated C4OH and basal ganglia lesion in the brain. Urine organic acids showed the presence of branch chain amino acid metabolites. Whole-exome sequencing identified a previously reported homozygous pathogenic variant in the\n                    <jats:italic toggle=\"yes\">ECHS1<\/jats:italic>\n                    gene (c.C518T (p.Ala173Val).\n                  <\/jats:p>","DOI":"10.4103\/ni.ni_579_22","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T12:16:09Z","timestamp":1738930569000},"page":"145-148","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Clinical, Biochemical and Molecular Characterization of Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency"],"prefix":"10.4103","volume":"73","author":[{"given":"Akella Radha Rama","family":"Devi","sequence":"first","affiliation":[{"name":"Banjara Hills Road No 3, Sandore Life Sciences, Near Banjara Hills Police Station, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,2,7]]},"reference":[{"key":"R1-20250713","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/ana.410390311","article-title":"Leigh syndrome: Clinical features and biochemical and DNA abnormalities","volume":"39","author":"Rahman","year":"1996","journal-title":"Ann Neurol"},{"key":"R2-20250713","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/acn3.189","article-title":"Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement","volume":"2","author":"Haack","year":"2015","journal-title":"Ann Clin Transl Neurol"},{"key":"R3-20250713","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/mds.26610","article-title":"Paroxysmal exercise- induced dystonia within the phenotypic spectrum of ECHS1 deficiency","volume":"31","author":"Olgiati","year":"2016","journal-title":"Mov Disord"},{"key":"R4-20250713","doi-asserted-by":"crossref","first-page":"2088","DOI":"10.3390\/ijerph19042088","article-title":"Pathogenic biallelic mutations in ECHS1 in a case with short-chain enoyl-CoA hydratase (SCEH) deficiency-case report and literature review","volume":"19","author":"Muntean","year":"2022","journal-title":"Int J Environ Res Public Health"},{"key":"R5-20250713","doi-asserted-by":"crossref","first-page":"837","DOI":"10.4103\/aian.AIAN_89_20","article-title":"Paroxysmal exercise-induced dyskinesia in siblings due to ECHS1 gene mutation \u2013 First Indian case report","volume":"23","author":"Senthilkumar","year":"2020","journal-title":"Ann Indian Acad Neurol"},{"key":"R6-20250713","article-title":"A novel variation of the short-chain enoyl-CoA hydratase-1 gene presenting with a novel mild phenotype: The second case report from India","author":"Das","year":"2022","journal-title":"J Pediatr Neurol"},{"key":"R7-20250713","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s10545-017-0036-4","article-title":"Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. J","volume":"40","author":"Balasubramaniam","year":"2017","journal-title":"Inherit Metab Dis"},{"key":"R8-20250713","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s00415-016-8381-z","article-title":"ECHS1 deficiency- associated paroxysmal exercise-induced dyskinesias: Case presentation and initial benefit of intervention","volume":"264","author":"Mahajan","year":"2017","journal-title":"J Neurol"},{"key":"R9-20250713","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1002\/acn3.51025","article-title":"Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency","volume":"5","author":"Ronchi","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"key":"R10-20250713","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s12887-020-1947-z","article-title":"Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency: Two case reports and the review of the literature","volume":"20","author":"Yang","year":"2020","journal-title":"BMC Pediatr"},{"key":"R11-20250713","doi-asserted-by":"crossref","first-page":"2903","DOI":"10.1093\/brain\/awu216","article-title":"ECHS1 mutations in Leigh disease: A new inborn error of metabolism affecting valine metabolism","volume":"137","author":"Peters","year":"2014","journal-title":"Brain"},{"key":"R12-20250713","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/ajmg.a.61074","article-title":"Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency","volume":"179","author":"Shayota","year":"2019","journal-title":"Am J Med Genet A"},{"key":"R13-20250713","first-page":"100553","article-title":"An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations","volume":"22","author":"Pajares","year":"2020","journal-title":"Mol Genet Metabol Rep"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ni.ni_579_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:38:55Z","timestamp":1786649935000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ni.ni_579_22"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/ni.ni_579_22","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2022-06-13","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-21","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}