Studies

CellWell record HH-74863

Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series

Batya Betesh-Abay; Eilon Shany; Orna Staretz-Chacham; Ilan Shelef; Abed N Azab

2026

In plain language

Scoping review of 7 preclinical and 10 human studies plus three patient cases found dichloroacetate and the ketogenic diet were the most studied treatments for pyruvate dehydrogenase complex deficiency, with reduced lactate reported.

Evidence
Emerging

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