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.
Savvidou et al. (Tue,) studied this question.