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Blood or CSF lactate and pyruvate are elevated with normal lactate to pyruvate (L/P) ratio (reference range: 10 to 20), differentiating primary pyruvate dehydrogenase complex deficiency from primary mitochondrial disorders, such as those due to electron transport chain dysfunction where L/P ratios are generally elevated

[DOI] [PMC free article] [PubMed] [Google Scholar] 664.Alli AA, Desai D, Elshika A, Conrad M, Proneth B, Clapp W, et al

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