{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:54:03Z","timestamp":1790970843169,"version":"4.1.0"},"reference-count":53,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-026-00945-9","type":"journal-article","created":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T06:37:33Z","timestamp":1790923053000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors"],"prefix":"10.1007","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8390-3537","authenticated-orcid":false,"given":"Shrestha","family":"Banerjee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6662-7071","authenticated-orcid":false,"given":"Anwesha","family":"Ghoshal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6104","authenticated-orcid":false,"given":"Satyabrata Roy","family":"Chowdhoury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"issue":"1","key":"945_CR1","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1186\/s12883-020-01735-y","volume":"20","author":"M Wu","year":"2020","unstructured":"Wu M, Gao W, Deng Z, Liu Z, Ma J, Xiao H, Xu Y, Sun D (2020) Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report. BMC Neurol 20(1):165. https:\/\/doi.org\/10.1186\/s12883-020-01735-y","journal-title":"BMC Neurol"},{"issue":"4","key":"945_CR2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2025.109158","volume":"145","author":"Y Liu","year":"2025","unstructured":"Liu Y, Shen D, Song T, Xu C, Duan X, Song M et al (2025) Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China. Mol Genet Metab 145(4):109158. https:\/\/doi.org\/10.1016\/j.ymgme.2025.109158","journal-title":"Mol Genet Metab"},{"issue":"4","key":"945_CR3","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph19042088","volume":"19","author":"C Muntean","year":"2022","unstructured":"Muntean C, Tripon F, Bogli\u0219 A, B\u0103nescu C (2022) Pathogenic biallelic mutations in ECHS1 in a case with short-chain enoyl-CoA hydratase (SCEH) deficiency-case report and literature review. Int J Environ Res Public Health 19(4):2088. https:\/\/doi.org\/10.3390\/ijerph19042088","journal-title":"Int J Environ Res Public Health"},{"key":"945_CR4","doi-asserted-by":"publisher","unstructured":"Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD et al (2020) The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. https:\/\/doi.org\/10.1136\/bmj.n71","DOI":"10.1136\/bmj.n71"},{"issue":"1","key":"945_CR5","doi-asserted-by":"publisher","first-page":"145","DOI":"10.4103\/ni.ni_579_22","volume":"73","author":"ARR Devi","year":"2025","unstructured":"Devi ARR (2025) Clinical, biochemical and molecular characterization of short-chain enoyl-CoA hydratase (ECHS1) deficiency. Neurol India 73(1):145\u20138. https:\/\/doi.org\/10.4103\/ni.ni_579_22","journal-title":"Neurol India"},{"key":"945_CR6","doi-asserted-by":"crossref","unstructured":"Ferdinandusse S, Friederich MW, Burlina A, Ruiter JPN, Coughlin CR, Dishop MK, et al (2015) Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis 10(1):79. doi:10.1186\/s13023-015-0290-1","DOI":"10.1186\/s13023-015-0290-1"},{"key":"945_CR7","doi-asserted-by":"crossref","unstructured":"Nair P, Hamzeh AR, Mohamed M, Malik EM, Al-Ali MT, Bastaki F. (2016) Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. Metab Brain Dis 31(5):1189\u201392. doi:10.1007\/s11011-016-9842-x","DOI":"10.1007\/s11011-016-9842-x"},{"key":"945_CR8","doi-asserted-by":"crossref","unstructured":"Al Mutairi F, Shamseldin HE, Alfadhel M, Rodenburg RJ, Alkuraya FS. (2017) A lethal neonatal phenotype of mitochondrial short-chain enoyl\u2010 CoA hydratase\u20101 deficiency. Clinical Genetics 91(4):629\u201333. doi:10.1111\/cge.12891","DOI":"10.1111\/cge.12891"},{"issue":"5","key":"945_CR9","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1002\/ajmg.a.38658","volume":"176","author":"PE Fitzsimons","year":"2018","unstructured":"Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT et al (2018) Clinical, biochemical, and genetic features of four patients with short-chain enoyl\u2010CoA hydratase (ECHS1) deficiency. Am J Med Genet A 176(5):1115\u201327. https:\/\/doi.org\/10.1002\/ajmg.a.38658","journal-title":"Am J Med Genet A"},{"issue":"5","key":"945_CR10","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1002\/acn3.189","volume":"2","author":"TB Haack","year":"2015","unstructured":"Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U et al (2015) Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol 2(5):492\u2013509. https:\/\/doi.org\/10.1002\/acn3.189","journal-title":"Ann Clin Transl Neurol"},{"issue":"2","key":"945_CR11","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1002\/jimd.12288","volume":"44","author":"L Marti-Sanchez","year":"2021","unstructured":"Marti-Sanchez L, Baide\u2010Mairena H, Marc\u00e9\u2010Grau A, Pons R, Skouma A, L\u00f3pez\u2010Laso E et al (2021) Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. J Inherit Metab Dis 44(2):401\u201314. https:\/\/doi.org\/10.1002\/jimd.12288","journal-title":"J Inherit Metab Dis"},{"key":"945_CR12","doi-asserted-by":"crossref","unstructured":"Pajares S, L\u00f3pez RM, Gort L, Argudo-Ram\u00edrez A, Mar\u00edn JL, Gonz\u00e1lez De Aledo-Castillo JM, et al. (2020) An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations. Molecular Genetics and Metabolism Reports 22:100553. doi:10.1016\/j.ymgmr.2019.100553","DOI":"10.1016\/j.ymgmr.2019.100553"},{"issue":"1","key":"945_CR13","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-018-1103-7","volume":"18","author":"P Aretini","year":"2018","unstructured":"Aretini P, Mazzanti CM, La Ferla M, Franceschi S, Lessi F, De Gregorio V et al (2018) Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome. BMC Neurol 18(1):99. https:\/\/doi.org\/10.1186\/s12883-018-1103-7","journal-title":"BMC Neurol"},{"issue":"1","key":"945_CR14","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01083-1","volume":"21","author":"D Sun","year":"2020","unstructured":"Sun D, Liu Z, Liu Y, Wu M, Fang F, Deng X et al (2020) Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report. BMC Med Genet 21(1):149. https:\/\/doi.org\/10.1186\/s12881-020-01083-1","journal-title":"BMC Med Genet"},{"issue":"1","key":"945_CR15","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-020-1947-z","volume":"20","author":"H Yang","year":"2020","unstructured":"Yang H, Yu D (2020) Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature. BMC Pediatr 20(1):50. https:\/\/doi.org\/10.1186\/s12887-020-1947-z","journal-title":"BMC Pediatr"},{"issue":"4","key":"945_CR16","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.70097","volume":"13","author":"J Wu","year":"2025","unstructured":"Wu J, Hu X, Zhao Z, Zhao Z, Yang B (2025) Expanding the clinical and genetic spectrum of mitochondrial short-chain enoyl\u2010CoA hydratase 1 deficiency: insights from two unrelated Chinese families. Molec Gen & Gen Med 13(4):e70097. https:\/\/doi.org\/10.1002\/mgg3.70097","journal-title":"Molec Gen & Gen Med"},{"issue":"7","key":"945_CR17","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2025.167930","volume":"1871","author":"B Wang","year":"2025","unstructured":"Wang B, Qin Y, Bao Y, Chen S, Zheng J, Lin S et al (2025) Deficiency in the conserved ECHS1 gene causes Leigh syndrome by impairing mitochondrial respiration efficiency and suppressing ADRB2-PKA signaling. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1871(7):167930. https:\/\/doi.org\/10.1016\/j.bbadis.2025.167930","journal-title":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"},{"issue":"4","key":"945_CR18","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1002\/ana.26313","volume":"91","author":"SL Stenton","year":"2022","unstructured":"Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D et al (2022) Leigh syndrome: a study of 209 patients at the Beijing Children\u2019s Hospital. Ann Neurol 91(4):466\u201382. https:\/\/doi.org\/10.1002\/ana.26313","journal-title":"Ann Neurol"},{"issue":"1","key":"945_CR19","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/ajmg.a.61936","volume":"185","author":"MT Simon","year":"2021","unstructured":"Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS et al (2021) ECHS1 disease in two unrelated families of Samoan descent: common variant - rare disorder. Am J Med Genet A 185(1):157\u201367. https:\/\/doi.org\/10.1002\/ajmg.a.61936","journal-title":"Am J Med Genet A"},{"issue":"4","key":"945_CR20","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1016\/j.ymgme.2017.02.002","volume":"120","author":"JK Bedoyan","year":"2017","unstructured":"Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G et al (2017) Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab 120(4):342\u20139. https:\/\/doi.org\/10.1016\/j.ymgme.2017.02.002","journal-title":"Mol Genet Metab"},{"issue":"5","key":"945_CR21","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1007\/s10545-017-0036-4","volume":"40","author":"S Balasubramaniam","year":"2017","unstructured":"Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ et al (2017) Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. J Inherit Metab Dis 40(5):745\u20137. https:\/\/doi.org\/10.1007\/s10545-017-0036-4","journal-title":"J Inherit Metab Dis"},{"key":"945_CR22","doi-asserted-by":"publisher","unstructured":"Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, et al. (2016) ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. JIMD Reports, Volume 30 [Internet]. Berlin, Heidelberg: Springer Berlin Heidelberg 33\u20137. (JIMD Reports). https:\/\/doi.org\/10.1007\/8904_2016_538","DOI":"10.1007\/8904_2016_538"},{"key":"945_CR23","doi-asserted-by":"crossref","unstructured":"Carlston CM, Ferdinandusse S, Hobert JA, Mao R, Longo N. (2018) Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. JIMD Reports, Volume 43 [Internet]. Berlin, Heidelberg: Springer Berlin Heidelberg 103\u20139. (JIMD Reports). Available from: http:\/\/link.springer.com\/10.1007\/8904_2018_111 doi:10.1007\/8904_2018_111","DOI":"10.1007\/8904_2018_111"},{"issue":"3","key":"945_CR24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2024.108508","volume":"142","author":"I Bernhardt","year":"2024","unstructured":"Bernhardt I, Frajman LE, Ryder B, Andersen E, Wilson C, McKeown C et al (2024) Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population. Mol Genet Metab 142(3):108508. https:\/\/doi.org\/10.1016\/j.ymgme.2024.108508","journal-title":"Mol Genet Metab"},{"issue":"1","key":"945_CR25","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-019-0050-1","volume":"6","author":"S Uchino","year":"2019","unstructured":"Uchino S, Iida A, Sato A, Ishikawa K, Mimaki M, Nishino I et al (2019) A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome. Hum Genome Var 6(1):19. https:\/\/doi.org\/10.1038\/s41439-019-0050-1","journal-title":"Hum Genome Var"},{"issue":"2","key":"945_CR26","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1002\/humu.22730","volume":"36","author":"C Sakai","year":"2015","unstructured":"Sakai C, Yamaguchi S, Sasaki M, Miyamoto Y, Matsushima Y, Goto Y (2015) ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. Hum Mutat 36(2):232\u20139. https:\/\/doi.org\/10.1002\/humu.22730","journal-title":"Hum Mutat"},{"issue":"10","key":"945_CR27","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1136\/jmedgenet-2015-103231","volume":"52","author":"K Yamada","year":"2015","unstructured":"Yamada K, Aiba K, Kitaura Y, Kondo Y, Nomura N, Nakamura Y et al (2015) 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. J Med Genet 52(10):691\u20138. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103231","journal-title":"J Med Genet"},{"key":"945_CR28","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100672","volume":"25","author":"M Uesugi","year":"2020","unstructured":"Uesugi M, Mori J, Fukuhara S, Fujii N, Omae T, Sasai H et al (2020) Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: a case report. Mol Genet Metab Rep 25:100672. https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100672","journal-title":"Mol Genet Metab Rep"},{"key":"945_CR29","doi-asserted-by":"crossref","unstructured":"Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, et al. (2021) Valine metabolites analysis in ECHS1 deficiency. Molecular Genetics and Metabolism Reports 29:100809. doi:10.1016\/j.ymgmr.2021.100809","DOI":"10.1016\/j.ymgmr.2021.100809"},{"key":"945_CR30","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.102392","author":"H Tada","year":"2026","unstructured":"Tada H, Ichimoto K, Murayama K, Goto T, Takanashi J (2026) New neuroimaging findings in enoyl-CoA hydratase short-chain 1 (ECHS1) deficiency. Cureus. https:\/\/doi.org\/10.7759\/cureus.102392","journal-title":"Cureus"},{"key":"945_CR31","doi-asserted-by":"crossref","unstructured":"Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, et al. (2014)\u00a0ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Brain 137(11):2903\u20138. doi:10.1093\/brain\/awu216","DOI":"10.1093\/brain\/awu216"},{"key":"945_CR32","doi-asserted-by":"crossref","unstructured":"D\u2019Annibale O, Phinney W, Crenshaw M, LoPiccolo MK, Elsharkawi I, Shelkowitz E, et al. (2025) Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis. Molecular Genetics and Metabolism 145(4):109156. doi:10.1016\/j.ymgme.2025.109156","DOI":"10.1016\/j.ymgme.2025.109156"},{"key":"945_CR33","doi-asserted-by":"crossref","unstructured":"Huffnagel IC, Redeker EJW, Reneman L, Vaz FM, Ferdinandusse S, Poll-The BT. (2017) Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. JIMD Reports, Volume 39 [Internet]. Berlin, Heidelberg: Springer Berlin Heidelberg [cited 2026 May 7] 83\u20137. (JIMD Reports). Available from: http:\/\/link.springer.com\/10.1007\/8904_2017_48 doi:10.1007\/8904_2017_48","DOI":"10.1007\/8904_2017_48"},{"key":"945_CR34","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.ejpn.2020.07.007","volume":"28","author":"S Masnada","year":"2020","unstructured":"Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M et al (2020) Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency. Eur J Paediatr Neurol 28:151\u20138. https:\/\/doi.org\/10.1016\/j.ejpn.2020.07.007","journal-title":"Eur J Paediatr Neurol"},{"issue":"5","key":"945_CR35","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1002\/acn3.51025","volume":"7","author":"D Ronchi","year":"2020","unstructured":"Ronchi D, Monfrini E, Bonato S, Mancinelli V, Cinnante C, Salani S et al (2020) Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency. Ann Clin Transl Neurol 7(5):839\u201345. https:\/\/doi.org\/10.1002\/acn3.51025","journal-title":"Ann Clin Transl Neurol"},{"key":"945_CR36","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1191159","volume":"14","author":"A Gedikbasi","year":"2023","unstructured":"Gedikbasi A, Toksoy G, Karaca M, Gulec C, Balci MC, Gunes D et al (2023) Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases. Front Genet 14:1191159. https:\/\/doi.org\/10.3389\/fgene.2023.1191159","journal-title":"Front Genet"},{"issue":"9","key":"945_CR37","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1007\/s00439-015-1577-y","volume":"134","author":"M Tetreault","year":"2015","unstructured":"Care4Rare Canada Consortium, Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT et al (2015) Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet 134(9):981\u201391. https:\/\/doi.org\/10.1007\/s00439-015-1577-y","journal-title":"Hum Genet"},{"issue":"5","key":"945_CR38","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1002\/ajmg.a.61074","volume":"179","author":"BJ Shayota","year":"2019","unstructured":"Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R et al (2019) Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short\u2010chain enoyl\u2010CoA hydratase deficiency. Am J Med Genet A 179(5):803\u20137. https:\/\/doi.org\/10.1002\/ajmg.a.61074","journal-title":"Am J Med Genet A"},{"issue":"5","key":"945_CR39","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1002\/acn3.51359","volume":"8","author":"K Engelstad","year":"2021","unstructured":"Engelstad K, Salazar R, Koenigsberger D, Stackowtiz E, Brodlie S, Brandabur M et al (2021) Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency. Ann Clin Transl Neurol 8(5):1151\u20137. https:\/\/doi.org\/10.1002\/acn3.51359","journal-title":"Ann Clin Transl Neurol"},{"issue":"11","key":"945_CR40","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104046","volume":"63","author":"S Illsinger","year":"2020","unstructured":"Illsinger S, Korenke GC, Boesch S, Nocker M, Karall D, Nuoffer JM et al (2020) Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: expanding the neurological spectrum and therapeutic approaches. Eur J Med Genet 63(11):104046. https:\/\/doi.org\/10.1016\/j.ejmg.2020.104046","journal-title":"Eur J Med Genet"},{"issue":"1","key":"945_CR41","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02468-6","volume":"17","author":"S Pata","year":"2022","unstructured":"Pata S, Flores-Rojas K, Gil A, L\u00f3pez-Laso E, Marti-S\u00e1nchez L, Baide-Mairena H et al (2022) Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency. Orphanet J Rare Dis 17(1):340. https:\/\/doi.org\/10.1186\/s13023-022-02468-6","journal-title":"Orphanet J Rare Dis"},{"key":"945_CR42","doi-asserted-by":"crossref","unstructured":"Huddar A, Govindaraj P, Chiplunkar S, Nagappa M, Taly AB, Sankaran BP. (2023) Paroxysmal Dystonia in a Child with Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Mutations. Journal of Pediatric Neurology 21(05):408\u201310. doi:10.1055\/s-0042-1758470","DOI":"10.1055\/s-0042-1758470"},{"issue":"7","key":"945_CR43","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1002\/mds.26610","volume":"31","author":"S Olgiati","year":"2016","unstructured":"Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ et al (2016) Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 31(7):1041\u20138. https:\/\/doi.org\/10.1002\/mds.26610","journal-title":"Mov Disord"},{"issue":"05","key":"945_CR44","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1055\/s-0042-1751248","volume":"21","author":"S Das","year":"2023","unstructured":"Das S, Ray BK, Chakraborty U, Kabiraj S (2023) A novel variant of the short-chain enoyl-CoA hydratase-1 gene presenting with a mild phenotype: the second case report from India. J Pediatr Neurol 21(05):377\u201383. https:\/\/doi.org\/10.1055\/s-0042-1751248","journal-title":"J Pediatr Neurol"},{"issue":"6","key":"945_CR45","doi-asserted-by":"publisher","first-page":"837","DOI":"10.4103\/aian.AIAN_89_20","volume":"23","author":"V Senthilkumar","year":"2020","unstructured":"Senthilkumar V, Sivaraj K (2020) Paroxysmal exercise-induced dyskinesia in siblings due to ECHS1 gene mutation \u2013 first Indian case report. Ann Indian Acad Neurol 23(6):837. https:\/\/doi.org\/10.4103\/aian.AIAN_89_20","journal-title":"Ann Indian Acad Neurol"},{"issue":"1","key":"945_CR46","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1007\/s00415-016-8381-z","volume":"264","author":"A Mahajan","year":"2017","unstructured":"Mahajan A, Constantinou J, Sidiropoulos C (2017) ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 264(1):185\u20137. https:\/\/doi.org\/10.1007\/s00415-016-8381-z","journal-title":"J Neurol"},{"key":"945_CR47","unstructured":"Ganetzky R, Kong C, Elsharkawi I. (2019) Mitochondrial Short-Chain Enoyl-CoA Hydratase Deficiency [Updated 2026 Mar 12]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132026. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK542806\/"},{"issue":"1","key":"945_CR48","doi-asserted-by":"publisher","DOI":"10.1136\/bmjno-2024-000650","volume":"6","author":"TE Ratnaike","year":"2024","unstructured":"Ratnaike TE, Elkhateeb N, Lochm\u00fcller A et al (2024) Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis. BMJ Neurol Open 6(1):e000650. https:\/\/doi.org\/10.1136\/bmjno-2024-000650","journal-title":"BMJ Neurol Open"},{"issue":"11","key":"945_CR49","doi-asserted-by":"publisher","first-page":"1740","DOI":"10.1016\/j.bcp.2011.07.103","volume":"82","author":"PBM Lu\u00eds","year":"2011","unstructured":"Lu\u00eds PBM, Ruiter JP, Ofman R et al (2011) Valproic acid utilizes the isoleucine breakdown pathway for its complete \u03b2-oxidation. Biochem Pharmacol 82(11):1740\u20131746. https:\/\/doi.org\/10.1016\/j.bcp.2011.07.103","journal-title":"Biochem Pharmacol"},{"key":"945_CR50","unstructured":"Corado A, Sait H, Shah M. (2026) Inborn Errors of Metabolism. [Updated 2026 Aug 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459183\/"},{"issue":"2","key":"945_CR51","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1002\/jmd2.12408","volume":"65","author":"P Wongkittichote","year":"2024","unstructured":"Wongkittichote P, Pantano C, He M, Hong X, Demczko MM (2024) Clinical, biochemical and molecular characterization of a new case with FDX2 -related mitochondrial disorder: potential biomarkers and treatment options. JIMD Rep 65(2):102\u2013109. https:\/\/doi.org\/10.1002\/jmd2.12408","journal-title":"JIMD Rep"},{"key":"945_CR52","doi-asserted-by":"crossref","unstructured":"Fazeli W, Karakaya M, Herkenrath P, et al. (2016) Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis. Mol Cell Pediatr 3(1):22. doi:10.1186\/s40348-016-0050-x","DOI":"10.1186\/s40348-016-0050-x"},{"issue":"2","key":"945_CR53","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.70073","volume":"67","author":"BK Walther","year":"2026","unstructured":"Walther BK, Murray BM, Pandiyan P, Ray R, Yeoh L, Kritzer A (2026) Mitochondrial dysfunction in propionic acidemia: a case-report and review of the literature. JIMD Rep 67(2):e70073. https:\/\/doi.org\/10.1002\/jmd2.70073","journal-title":"JIMD Rep"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00945-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-026-00945-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-026-00945-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:02:02Z","timestamp":1790967722000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-026-00945-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,2]]},"references-count":53,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["945"],"URL":"https:\/\/doi.org\/10.1007\/s10048-026-00945-9","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,2]]},"assertion":[{"value":"8 July 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 October 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable. This study is a systematic of previously published literature. No primary data collection from human participants or animals was performed, and no individual patient-level data was accessed.","order":1,"name":"Ethics","label":"Ethical Approval and Consent to Participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"77"}}