Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency
Antri Savvidou1,2, Colin Reilly1,2, Kalliopi Sofou1,2
1Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Annals of Clinical and Translational Neurology
|August 6, 2026
Summary
Pyruvate dehydrogenase complex deficiency (PDCD) frequently causes intellectual disability and motor deficits. The ketogenic diet shows promise as a safe and effective treatment for managing seizures and preventing neurological relapses in PDCD patients.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Pyruvate dehydrogenase complex deficiency (PDCD) is a rare genetic metabolic disorder.
- It affects cellular energy production, leading to a range of neurological and developmental issues.
Purpose of the Study:
- To characterize intellectual and motor function in Swedish patients with PDCD.
- To investigate neurological features, including epilepsy and adaptive behavior.
- To assess treatment response, particularly to the ketogenic diet.
Main Methods:
- A nationwide epidemiological study identified 42 individuals with genetically confirmed PDCD.
- Systematic neurological evaluations were performed on 41 individuals.
- Caregiver interviews assessed adaptive behavior in 35 individuals.
Main Results:
- Intellectual disability (79%) and impaired adaptive functioning (89%) were common.
- Motor deficits were prevalent, with only 21% showing age-appropriate walking ability.
- Ketogenic diet treatment in 30 individuals effectively reduced seizures (89%) and prevented neurological relapses.
Conclusions:
- Intellectual disability and adaptive deficits are frequent in PDCD.
- The ketogenic diet is a safe and effective therapeutic option for PDCD.
- Prenatal onset and epilepsy are associated with more severe intellectual disability.
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