Population-based study examines clinical features and diagnostic clues of PDHc deficiency in Sweden, suggesting broader implications for diagnosis.
This nationwide, population-based study reports on the occurrence and survival of PDHc deficiency. We demonstrate genotype-sex-phenotype differences in PDHA1-related disease and describe a wider spectrum of clinical features than previously recognized. The broader detection likely reflects the study's population-based and cross-sectional design. Furthermore, we show that the discrepancy between pyruvate and glutamate oxidation in muscle mitochondrial investigations may serve as a diagnostic clue.
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Savvidou et al. (2026) studied this question.
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