ArticleNeurology2026
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.
Article in Neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.Annals of clinical and translational neurology · 2026Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesPyruvate dehydrogenase complex (PDHc) deficiency is a potentially treatable neurodegenerative genetic disorder. It represents a common cause of mitochondrial disease. Most published reports are limited to single cases, and population-based data are lacking. The objective of this study was to investigate the prevalence, incidence, and life expectancy and to explore genotype-phenotype correlations, clinical onset, and disease course.
methodsWe conducted a nationwide, population-based epidemiologic cohort study with retrospective, longitudinal, and cross-sectional components. The cohort included all individuals residing in Sweden who were diagnosed between 2003 and 2022.
resultsA total of 54 patients (35 female patients) were identified, corresponding to a birth prevalence of 2.43 per 100,000 live births (95% CI 1.86-3.17) and a point prevalence of 0.44 per 100,000 population (95% CI 0.40-0.65). Eight patients (15%) died during the study period. The primary causes of death were congenital lactic acidosis (n = 4), stroke (n = 2), and infection (n = 2). We identified 35 pathogenic variants, including 11 not previously reported. X-linked DISCUSSION: This nationwide, population-based study reports on the occurrence and survival of PDHc deficiency. We demonstrate genotype-sex-phenotype differences in
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