{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T21:16:36Z","timestamp":1792790196733,"version":"4.5.0"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Short-chain enoyl-CoA hydratase (ECHS1) deficiency is a rare metabolic disorder. Concerned patients present with Leigh syndrome symptoms or a Leigh-like syndrome. Only 58 patients are known worldwide. The ECHS1 is a key component in \u03b2-oxidation and valine catabolic pathways.<\/jats:p><jats:p>\n          Case\u2003Here we report a 6-month-old Lebanese boy born to consanguineous parents. He presented an increased muscle tone, hyperexcitability, feeding problems, horizontal nystagmus, and developmental delay. Magnetic resonance imaging of the brain revealed frontal brain atrophy, corpus callosum atrophy, and T2 hyperintensity in pallidum, internal capsule, pons, and thalamus. In the postsedation phase, the patient displayed a sudden generalized seizure with transition to status epilepticus. Therefore, we conducted metabolic examinations, which showed elevated levels of 2-methyl-2,3-DiOH-butyrate and 3-methylglutaconate in urine. Single exome sequencing revealed the homozygous mutation c.476A\u2009&gt;\u2009G in the ECHS1 gene.<\/jats:p><jats:p>\n          Conclusion\u2003This case report describes the clinical symptoms and the diagnostics of ECHS1 deficiency. It shows the importance of further metabolic and genetic testing of patients with motoric conspicuities and developmental delay. It is important to be cautious with propofol sedation of patients who present an unknown neurological disorder, when metabolic disturbance or especially mitochondriopathy is suspected.<\/jats:p>","DOI":"10.1055\/s-0042-1742305","type":"journal-article","created":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T06:06:42Z","timestamp":1643609202000},"page":"213-216","source":"Crossref","is-referenced-by-count":3,"title":["A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report"],"prefix":"10.1055","volume":"53","author":[{"given":"Matthias","family":"Preusse","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Helios Medical Center, Witten-Herdecke University, Wuppertal, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Paraschaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Helios Medical Center, Witten-Herdecke University, Wuppertal, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soeren","family":"Lutz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Evangelisches Krankenhaus Oberhausen, Oberhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2022,1,28]]},"reference":[{"key":"ref1","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":"H Peters","year":"2014","journal-title":"Brain"},{"issue":"10","key":"ref2","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1136\/jmedgenet-2015-103231","article-title":"Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion","volume":"52","author":"K Yamada","year":"2015","journal-title":"J Med Genet"},{"issue":"06","key":"ref3","doi-asserted-by":"crossref","first-page":"E46","DOI":"10.3390\/cells7060046","article-title":"Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency","volume":"7","author":"A J Sharpe","year":"2018","journal-title":"Cells"},{"issue":"04","key":"ref4","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1002\/1873-3468.13735","article-title":"Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency","volume":"594","author":"H J Burgin","year":"2020","journal-title":"FEBS Lett"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.ejpn.2020.07.007","article-title":"Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency","volume":"28","author":"S Masnada","year":"2020","journal-title":"Eur J Paediatr Neurol"},{"issue":"01","key":"ref6","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/ajmg.a.61936","article-title":"ECHS1 disease in two unrelated families of Samoan descent: common variant - rare disorder","volume":"185","author":"M T Simon","year":"2021","journal-title":"Am J Med Genet A"},{"issue":"05","key":"ref7","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":"7","author":"D Ronchi","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"issue":"01","key":"ref8","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1186\/s12883-020-01735-y","article-title":"Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report","volume":"20","author":"M Wu","year":"2020","journal-title":"BMC Neurol"},{"issue":"01","key":"ref9","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":"H Yang","year":"2020","journal-title":"BMC Pediatr"},{"issue":"01","key":"ref10","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/s12881-020-01083-1","article-title":"Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report","volume":"21","author":"D Sun","year":"2020","journal-title":"BMC Med Genet"},{"issue":"10","key":"ref11","doi-asserted-by":"crossref","first-page":"18288","DOI":"10.1002\/jcb.29138","article-title":"Propofol induces impairment of mitochondrial biogenesis through inhibiting the expression of peroxisome proliferator-activated receptor-\u03b3 coactivator-1\u03b1","volume":"120","author":"J Qin","year":"2019","journal-title":"J Cell Biochem"},{"issue":"03","key":"ref12","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s00112-005-1097-2","article-title":"Diagnostische und therapeutische Prozeduren: Sedierung und Analgesie im Kindesalter","volume":"153","author":"S Meyer","year":"2005","journal-title":"Monatsschr Kinderheilkd"},{"key":"ref13","volume-title":"Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency","author":"R Ganetzky","year":"2019"},{"issue":"06","key":"ref14","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1007\/s11940-009-0046-0","article-title":"A modern approach to the treatment of mitochondrial disease","volume":"11","author":"S Parikh","year":"2009","journal-title":"Curr Treat Options Neurol"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.braindev.2020.10.003","article-title":"Valine-restricted diet for patients with ECHS1 deficiency: divergent clinical outcomes in two Japanese siblings","volume":"43","author":"I Sato-Shirai","year":"2021","journal-title":"Brain Dev"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0042-1742305.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T14:22:18Z","timestamp":1730816538000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0042-1742305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,28]]},"references-count":15,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2022,7,15]]},"published-print":{"date-parts":[[2022,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0042-1742305","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,28]]}}}