Pyruvate dehydrogenase complex deficiency
Enzyme or protein defect
PDH E1-alpha
Accumulates or becomes deficient
Lactate, alanine, pyruvate
Key features
Congenital lactic acidosis, neurological impairment; worsened by high-carbohydrate diet
Management
Ketogenic diet; thiamine trial; dichloroacetate
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.
Keshavan N, Neugebauer J, Bellusci M, Bertini E, Brown G, Darin N, DeBrosse S, Drexler L, Drexler S, Enns GM,… · 2026-11-01
cited 1× open access unreviewed -
2
Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. eleganspdha‐1 and dld‐1RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD)
Remes C, Mathew N, Miranda V, Haroon S, O'Hara T, Anderson V, Lavorato M, Keith K, Xiao R, Nakamaru‐Ogiso E, … · 2026-10-07
open access unreviewed -
3
Hyperinflammatory syndromes in primary mitochondrial disease: A three-center case series and focused review.
Brooks DR, Gordon-Lipkin E, Elsharkawi I, Kruk S, Hesselgesser M, Eng C, Bi W, Emrick L, Fisher KS, McGuire P… · 2026-09-26
unreviewed -
4
Neurometabolic Epilepsies: A Practical Guide to Recognition, Diagnostic Workup, and Precision Treatment.
Şengenç E, Zubarioglu T, Kiykim E, Aktuğlu Zeybek Ç. · 2026-09-28
unreviewed -
5
Phase III trial of sodium dichloroacetate for pyruvate dehydrogenase complex deficiency in children.
Stacpoole PW, Abdenur JE, Bedoyan JK, Botto L, Enns GM, Falk MJ, Ganetzky R, Garganta C, Glinton K, Gropman A… · 2026-09-22
open access unreviewed -
6
The Ketogenic Diet as Adjunctive Strategy in Cancer Treatment-Therapeutic Benefits and Metabolic Risk Using Breast Cancer as an Example.
Szołtysek J, Szymańska B, Piwowar A. · 2026-09-06
open access unreviewed -
7
LRRC4 Orchestrates AP2A1-Containing Clathrin-Coated Vesicles to Disrupt Mitochondrial Cristae and Restrict Glioblastoma Progression.
Li Y, Huang C, Jiang L, Li Z, Liu Q, Wu M. · 2026-07-13
open access unreviewed -
8
Next generation AAV-F capsid gene therapy rescues disease pathology in a model of pyruvate dehydrogenase complex deficiency.
Keegan A, Çetin Ö, Chilcott EM, Diaz JA, Eaton S, Waddington SN, Counsell JR, Rahman S, Karda R. · 2026-06-15
open access unreviewed -
9
From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.
Fu Y, Tan X, Qin L, Wang C. · 2025-12-05
cited 2× open access unreviewed -
10
From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to <i>PDHA1</i> Variants.
Corbaz S, Pibernus DA, Loos MA, Pérez MM, Buompadre MC, García FM, Rodriguez MP, Rugilo C, Armeno M, Seo GH, … · 2025-12-23
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.