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Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
Kalliopi Sofou1, Maria Dahlin2, Tove Hallböök3
1Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden. kalliopi.sofou@vgregion.se.
Insights
The ketogenic diet showed positive effects on epilepsy, ataxia, and development in pediatric patients with pyruvate dehydrogenase complex deficiency. Maintaining ketosis was key to treatment success and safety for most patients.
Area of Science:
- Metabolic disorders
- Pediatric neurology
- Nutritional ketosis
Background:
- Pyruvate dehydrogenase complex deficiency (PDCD) is a rare genetic disorder affecting cellular energy metabolism.
- Current treatment options for PDCD are limited, often focusing on supportive care and symptom management.
- The ketogenic diet, known for its metabolic effects, has been explored as a therapeutic strategy for neurological conditions.
Purpose of the Study:
- To evaluate the short- and long-term efficacy of the ketogenic diet in pediatric patients with PDCD.
- To assess the impact of the ketogenic diet on disease course, neurodevelopmental outcomes, and quality of life.
- To investigate safety, compliance, and metabolic factors associated with ketogenic diet therapy in PDCD.
Main Methods:
- Retrospective evaluation of pediatric patients with PDCD treated with a ketogenic diet in Sweden.
- Inclusion of developmental, neurocognitive, and clinical assessments, alongside patient logs and questionnaires.
- Systematic literature review to contextualize findings within existing research.
Main Results:
- The ketogenic diet demonstrated significant benefits in managing epilepsy, ataxia, sleep disturbances, and speech/language development in PDCD patients.
- Positive impacts were observed in social functioning and reduced hospitalization frequency.
- Dietary compliance was crucial; poor adherence correlated with disease relapse and developmental stagnation. The diet was generally safe, with one case of pancreatitis.
Conclusions:
- The ketogenic diet is an effective and generally safe therapeutic option for the majority of pediatric patients with PDCD.
- Treatment outcomes are significantly influenced by the specific disease phenotype and the patient's ability to achieve and maintain nutritional ketosis.
- Optimizing ketogenic diet adherence is essential for maximizing therapeutic benefits and preventing disease progression.
Objectives:
Our 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.
Methods:
Pediatric 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.
Results:
Nineteen 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.
Conclusion:
Ketogenic 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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