{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T15:50:04Z","timestamp":1784994604838,"version":"3.55.0"},"reference-count":101,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pyruvate dehydrogenase complex deficiency (PDCD) is a heterogenous mitochondrial inborn error in carbohydrate oxidation manifesting as congenital lactic acidosis. PDCD presents diagnostic and therapeutic challenges. While no curative treatment exists for PDCD, certain therapeutic modalities may improve prognosis and ameliorate symptom severity. This article examines the effectiveness of treatments for PDCD and presents a case series of three patients with PDCD. A scoping literature review was conducted for treatments of PDCD. Patient data for case reports was extracted retrospectively from electronic medical records from a large tertiary hospital. We reviewed and summarized findings from seven preclinical studies and ten human studies, which showed that dichloroacetate and the ketogenic diet were the most frequently studied treatments. Therapeutic approaches observed select positive outcomes such as reduced lactate levels, improved neuropathological manifestations, and increased longevity. However, most interventions have yet to be rigorously investigated. Early diagnosis of PDCD is integral, as treatment methods may offer improved clinical and biochemical outcomes. Clinical trials of existing and novel treatments are necessary to improve management and further understand the prognostic potential of this metabolic disorder.<\/jats:p>","DOI":"10.3390\/ijms27062732","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T14:03:27Z","timestamp":1773756207000},"page":"2732","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6672-443X","authenticated-orcid":false,"given":"Batya","family":"Betesh-Abay","sequence":"first","affiliation":[{"name":"Department of Nursing, School for Community Health Professions, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel"},{"name":"Neonatal Department, Saban Children Hospital, Soroka University Medical Center, Beer-Sheva 8410101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4142-3707","authenticated-orcid":false,"given":"Eilon","family":"Shany","sequence":"additional","affiliation":[{"name":"Neonatal Department, Saban Children Hospital, Soroka University Medical Center, Beer-Sheva 8410101, Israel"},{"name":"Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6975-4909","authenticated-orcid":false,"given":"Orna","family":"Staretz-Chacham","sequence":"additional","affiliation":[{"name":"Neonatal Department, Saban Children Hospital, Soroka University Medical Center, Beer-Sheva 8410101, Israel"},{"name":"Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel"},{"name":"Rare Disease Center, Saban Children Hospital, Soroka University Medical Center, Beer-Sheva 8410101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilan","family":"Shelef","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel"},{"name":"Radiology Department, Soroka University Medical Center, Beer-Sheva 8410101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abed N.","family":"Azab","sequence":"additional","affiliation":[{"name":"Department of Nursing, School for Community Health Professions, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel"},{"name":"Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel"},{"name":"The School of Brain Sciences and Cognition, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1016\/j.clinbiochem.2013.04.027","article-title":"A quick look at biochemistry: Carbohydrate metabolism","volume":"46","author":"Dashty","year":"2013","journal-title":"Clin. 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