{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T17:01:50Z","timestamp":1787677310674,"version":"build-2784847793"},"reference-count":11,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T00:00:00Z","timestamp":1762128000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Beta ketothiolase deficiency is a hereditary metabolic disorder caused by the pathogenic variants of the ACAT gene, which encodes for the mitochondrial enzyme acetoacetyl-CoA thiolase. Patients with a deficiency of the enzyme experience recurrent episodes of metabolic ketoacidosis. Knowledge of the clinical course of this entity, together with the available diagnostic tests, allows for its early diagnosis and prompt intervention to avoid complications or death of the infant. In this study, we present a case of a 9-month-old girl that attended the emergency room and diagnosis was made at the first episode of metabolic ketoacidosis.<\/jats:p>","DOI":"10.3390\/pediatric17060113","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:15:14Z","timestamp":1762175714000},"page":"113","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis"],"prefix":"10.3390","volume":"17","author":[{"given":"Luis D.","family":"Campos-Acevedo","sequence":"first","affiliation":[{"name":"Genetics Department, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d and Medicine Faculty, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4312-0910","authenticated-orcid":false,"given":"Joel","family":"Arenas-Estala","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d and Medicine Faculty, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3875-4532","authenticated-orcid":false,"given":"Marisol","family":"Ibarra-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d and Medicine Faculty, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciela A.","family":"L\u00f3pez-Uriarte","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d and Medicine Faculty, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda C.","family":"Ru\u00edz-Herrera","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d and Medicine Faculty, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo","family":"Rodr\u00edguez-Rivera","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d and Medicine Faculty, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Mart\u00ednez-de-Villarreal","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d and Medicine Faculty, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/0378-1119(91)90623-J","article-title":"Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene","volume":"109","author":"Kano","year":"1991","journal-title":"Gene"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1002\/humu.23831","article-title":"Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency","volume":"40","author":"Abdelkreem","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/s10038-018-0524-x","article-title":"Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency","volume":"64","author":"Fukao","year":"2019","journal-title":"J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1186\/s13023-020-01357-0","article-title":"2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: One disease\u2014Two pathways","volume":"15","author":"Sass","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_5","first-page":"93","article-title":"Beta-ketothiolase deficiency: Report of two Iranian patients and literature review","volume":"12","author":"Vakili","year":"2018","journal-title":"Iran. J. 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Genet., 10.","DOI":"10.3389\/fgene.2019.00451"},{"key":"ref_11","first-page":"1","article-title":"Beta-Ketothiolase deficiency: Resolving challenges in diagnosis","volume":"4","author":"Abdelkreem","year":"2016","journal-title":"JIMD Rep."}],"container-title":["Pediatric Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2036-7503\/17\/6\/113\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T14:33:43Z","timestamp":1762180423000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2036-7503\/17\/6\/113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,3]]},"references-count":11,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["pediatric17060113"],"URL":"https:\/\/doi.org\/10.3390\/pediatric17060113","relation":{},"ISSN":["2036-7503"],"issn-type":[{"value":"2036-7503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,3]]}}}