ArticleJournal of inherited metabolic disease2017
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 4 of them syntheses that pooled it.
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Who cites it
76 citing papers in PubMed, 4 syntheses or guidelines pooled it, 196 citations in OpenAlex.
- Efficacy and safety of ketogenic diets in drug-resistant epilepsy: a systematic review and meta-analysis.World journal of pediatrics : WJP · 2025Pooled it
- A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.Diagnostics (Basel, Switzerland) · 2024Guideline
- The Influence of Ketone Bodies on Circadian Processes Regarding Appetite, Sleep and Hormone Release: A Systematic Review of the Literature.Nutrients · 2022Pooled it
- Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.Orphanet journal of rare diseases · 2021Pooled it
- Phase III trial of sodium dichloroacetate for pyruvate dehydrogenase complex deficiency in children.JCI insight · 2026Trial
- Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).Journal of inherited metabolic disease · 2026Article
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.Annals of clinical and translational neurology · 2026Article
- The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Brain : a journal of neurology · 2026Article
- A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.Neurology · 2026Article
- In vivo assessment of the recovery of myocardial pyruvate dehydrogenase activity following a ketogenic diet.Cardiovascular research · 2026Article
- The Ketogenic Diet and Potential Micronutrient Risks in Drug-Resistant Epilepsy Management: A Literature Review.Nutrients · 2026Review
- Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.International journal of molecular sciences · 2026Review
- Ketogenic diet therapy in developmental and epileptic encephalopathies: toward syndrome- and gene-informed precision therapy.Frontiers in pediatrics · 2026Review
- Carotid intima-media thickness may be an early biomarker for cardiovascular risk in patients treated with ketogenic dietary therapy.Epilepsia open · 2025Article
- Metabolic plasticity: an evolutionary perspective on metabolic and circadian dysregulation in bipolar disorder.Molecular psychiatry · 2025Review
- Ketogenic diet in neonates: effects, pitfalls, and a paradigm from a preterm newborn affected by pyruvate dehydrogenase deficiency.Journal of perinatology : official journal of the California Perinatal Association · 2025Review
- Therapies for Mitochondrial Disease: Past, Present, and Future.Journal of inherited metabolic disease · 2025Review
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- Ketogenic diet therapy for the treatment of pediatric epilepsy.Epileptic disorders : international epilepsy journal with videotape · 2025Review
16 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesOur aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues.
methodsPediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. Study assessments at specific time points included developmental and neurocognitive testing, patient log books, and investigator and parental questionnaires. A systematic literature review was also performed.
resultsNineteen patients were assessed, the majority having prenatal disease onset. Patients were treated with ketogenic diet for a median of 2.9 years. All patients alive at the time of data registration at a median age of 6 years. The treatment had a positive effect mainly in the areas of epilepsy, ataxia, sleep disturbance, speech/language development, social functioning, and frequency of hospitalizations. It was also safe-except in one patient who discontinued because of acute pancreatitis. The median plasma concentration of ketone bodies (3-hydroxybutyric acid) was 3.3 mmol/l. Poor dietary compliance was associated with relapsing ataxia and stagnation of motor and neurocognitive development. Results of neurocognitive testing are reported for 12 of 19 patients.
conclusionKetogenic diet was an effective and safe treatment for the majority of patients. Treatment effect was mainly determined by disease phenotype and attainment and maintenance of ketosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.