Article
Personalized Dosing of Dichloroacetate Using GSTZ1 Clinical Genotyping Assay.
Genetic testing and molecular biomarkers - 1 Apr 2018
Langaee Taimour, Wagner Richard, Horne Lloyd P, Lawson Lee Ann, Becker Cecilia, Shahin Mohamed, Starostik Petr, Stacpoole Peter W
Abstract excerpt
AIMS: Dichloroacetate (DCA) represents the first targeted therapy for pyruvate dehydrogenase complex deficiency; it is metabolized by glutathione transferase zeta1 (GSTZ1). Variation in the GSTZ1 haplotype is the principal variable influencing DCA kinetics and dynamics in humans. We aimed to develop a sensitive and rapid clinical genetic screening test for determining GSTZ1 haplotype status in individuals who...
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