Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development. Patients present with severe lactic acidosis, normal lactate/pyruvate ratios and normal pyruvate dehydrogenase activity. Mitochondrial pyruvate carrier mediates the proton symport of pyruvate across the inner mitochondrial membrane, and plays a key role in glycolysis and gluconeogenesis.
Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J
タイトル
A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.
