Comparison between dichloroacetate and phenylbutyrate treatment for pyruvate dehydrogenase deficiency

• Main Authors: Karissa, Patricia, Simpson, Timothy, Dawson, Simon P., Low, Teck Yew, Tay, Sook Hui, Nordin, Fatimah Diana Amin, Mohd Zain, Shamsul, Lee, Pey Yee, Pung, Yuh-Fen
• Format: Article
• Published: Frontiers Media SA 2022
• Subjects: RC Internal medicine
• Online Access: http://eprints.um.edu.my/42179/
• Institution: Universiti Malaya

Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in the PDHA1 gene. The PDHA1 gene encodes one of the subunits of the PDH enzyme found in a carbohydrate metabolism pathway involved in energy production. Pathogenic variants of PDHA1 ge...