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 · from cache · sorted by publication date
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1
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
unreviewed -
2
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
open access unreviewed -
3
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 -
4
Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.
Savvidou A, Reilly C, Sofou K, Ygberg S, Eklund EA, Naess K, Darin N. · 2026-08-06
unreviewed -
5
Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.
Madsen S, Allender B, Blackford R, Bollard T, Comerford A, Johnson ML, Sinha R, Vanatta L, Whiteley VJ, Schoe… · 2026-06-18
unreviewed -
6
Serial Prenatal Imaging of Ganglionic Eminence Evolution: A PDHA1-Variant Case Demonstrating Metabolic Brain Injury Dynamics.
Tian T, Chen H, Luo H, Hu T. · 2026-02-27
unreviewed -
7
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, F… · 2026-07-01
cited 3× unreviewed -
8
Neonatal Epilepsy: Beyond Seizures in a Developing Brain—A Narrative Review
Boscarino G, Cresta E, Leonardi L, Di Chiara M, Spalice A, Terrin G. · 2026-06-01
open access unreviewed -
9
From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases.
Stern S, Crisamore K, Patton J, Schuck R, Pacanowski M. · 2026-06-01
open access unreviewed -
10
Primary Pyruvate Dehydrogenase Complex Deficiency Mimicking Cytomegalovirus Foetopathy on Prenatal Brain Imaging: A Case Report - An Alternative Diagnosis to Consider when Faced with Negative Infectious Work-Up.
Cabet S, Rochet-Capellan C, Riche A, Azouri P, Vasiljevic A, Guibaud L. · 2026-06-12
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.