{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:07:05Z","timestamp":1780621625463,"version":"3.54.1"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"5","funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109636"],"award-info":[{"award-number":["JP23ek0109636"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Health and Labour Sciences Research Grants for Research on Rare and Intractable Diseases from the Ministry of Health, Labour, and Welfare of Japan","award":["23FC1033"],"award-info":[{"award-number":["23FC1033"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0565_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Ketoacidosis from idiopathic ketotic hypoglycemia (IKH) rarely causes severe acidemia or requires emergency management. We report a rare inborn error of metabolism presenting with severe acidemia secondary to ketoacidosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0565_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 13-month-old boy developed severe respiratory distress during his first febrile episode. Laboratory tests revealed severe anion gap metabolic acidosis (pH\u00a06.866, HCO\n                      <jats:sub>3<\/jats:sub>\n                      <jats:sup>\u2212<\/jats:sup>\n                      5.6\u202fmmol\/L, anion gap 23.4 mEq\/L) with markedly elevated D-3-hydroxybutyrate (3HB 6,969\u202f\u03bcmol\/L). Acidosis improved following blood purification therapy, and\u00a0he was discharged without sequelae. Metabolic testing suggested a ketone body utilization disorder. He was diagnosed with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency as a compound heterozygote for a previously reported T435N variant and a novel L131_E132dup variant of\n                      <jats:italic>OXCT1,<\/jats:italic>\n                      with low SCOT activity in lymphocytes. Transient expression analysis of the L131_E132dup cDNA demonstrated no residual enzyme activity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0565_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We compared data from patients with IKH requiring hospitalization and those with SCOT deficiency. Although 3HB levels did not differ significantly, patients with SCOT deficiency had significantly lower pH\u00a0and HCO\n                      <jats:sub>3<\/jats:sub>\n                      <jats:sup>\u2212<\/jats:sup>\n                      levels. In ketone body utilization disorders, once ketogenesis is upregulated, ketone bodies rapidly accumulate before renal compensation, leading to severe acidemia. In cases of disproportionate acidemia during ketoacidosis, ketone body utilization disorders should be considered.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0565","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T05:55:48Z","timestamp":1768197348000},"page":"508-514","source":"Crossref","is-referenced-by-count":0,"title":["Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic\n                    <i>OXCT1<\/i>\n                    variant (L131_E132dup) and its pathophysiological basis"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3486-3070","authenticated-orcid":false,"given":"Natsuho","family":"Adachi","sequence":"first","affiliation":[{"name":"Department of Pediatrics , 38551 The University of Tokyo Hospital , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Graduate School of Medicine, Gifu University , Gifu , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Graduate School of Medicine, Gifu University , Gifu , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Sasai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Graduate School of Medicine, Gifu University , Gifu , Japan"},{"name":"Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases , Graduate School of Medicine, Gifu University , Gifu , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5135-4093","authenticated-orcid":false,"given":"Hiroyuki","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , 38551 The University of Tokyo Hospital , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,1,13]]},"reference":[{"key":"2026060500564538010_j_jpem-2025-0565_ref_001","doi-asserted-by":"crossref","unstructured":"Fukao, T, Mitchell, G, Sass, JO, Hori, T, Orii, K, Aoyama, Y. Ketone body metabolism and its defects. J\u00a0Inherit Metab Dis 2014;37:541\u201351. https:\/\/doi.org\/10.1007\/s10545-014-9704-9.","DOI":"10.1007\/s10545-014-9704-9"},{"key":"2026060500564538010_j_jpem-2025-0565_ref_002","doi-asserted-by":"crossref","unstructured":"Sass, JO. Inborn errors of ketogenesis and ketone body utilization. J\u00a0Inherit Metab Dis 2012;35:23\u20138. https:\/\/doi.org\/10.1007\/s10545-011-9324-6.","DOI":"10.1007\/s10545-011-9324-6"},{"key":"2026060500564538010_j_jpem-2025-0565_ref_003","doi-asserted-by":"crossref","unstructured":"Drachmann, D, Hoffmann, E, Carrigg, A, Davis-Yates, B, Weaver, V, Thornton, P, et al.. Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, ketotic hypoglycemia international. 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J\u00a0Inherit Metab Dis 2010;33:S307\u201313. https:\/\/doi.org\/10.1007\/s10545-010-9168-5.","DOI":"10.1007\/s10545-010-9168-5"},{"key":"2026060500564538010_j_jpem-2025-0565_ref_010","doi-asserted-by":"crossref","unstructured":"Hori, T, Yamaguchi, S, Shinkaku, H, Horikawa, R, Shigematsu, Y, Takayanagi, M, et al.. Inborn errors of ketone body utilization. Pediatr Int 2015;57:41\u20138. https:\/\/doi.org\/10.1111\/ped.12585.","DOI":"10.1111\/ped.12585"},{"key":"2026060500564538010_j_jpem-2025-0565_ref_011","doi-asserted-by":"crossref","unstructured":"Schillaci, LP, DeBrosse, SD, McCandless, SE. Inborn errors of metabolism with acidosis: organic acidemias and defects of pyruvate and ketone body metabolism. Pediatr Clin 2018;65:209230. https:\/\/doi.org\/10.1016\/j.pcl.2017.11.003.","DOI":"10.1016\/j.pcl.2017.11.003"},{"key":"2026060500564538010_j_jpem-2025-0565_ref_012","doi-asserted-by":"crossref","unstructured":"Alghamdi, MA, Tohary, M, Alzaidan, H, Imtiaz, F, Al-Hassnan, ZN. Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: report of 17 cases. JIMD Rep 2021;62:91\u20136. https:\/\/doi.org\/10.1002\/jmd2.12248.","DOI":"10.1002\/jmd2.12248"},{"key":"2026060500564538010_j_jpem-2025-0565_ref_013","doi-asserted-by":"crossref","unstructured":"Shafqat, N, Kavanagh, KL, Sass, JO, Christensen, E, Fukao, T, Lee, WH, et al.. A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. J\u00a0Inherit Metab Dis 2013;36:983\u20137. https:\/\/doi.org\/10.1007\/s10545-013-9589-z.","DOI":"10.1007\/s10545-013-9589-z"},{"key":"2026060500564538010_j_jpem-2025-0565_ref_014","doi-asserted-by":"crossref","unstructured":"Gr\u00fcnert, SC, Foster, W, Schumann, A, Lund, A, Pontes, C, Roloff, S, et al.. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: a rare and potentially fatal metabolic disease. 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