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Mitochondrial pyruvate carrier deficiency

Definition:

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.

References:

[1]. Daniel K Bricker, et al. A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Science. 2012 Jul 6;337(6090):96-100. [Content Brief]

[2]. Kyle S McCommis, et al. Mitochondrial pyruvate transport: a historical perspective and future research directions. Biochem J. 2015 Mar 15;466(3):443-54. [Content Brief]

[3]. M Brivet, et al. Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. Mol Genet Metab. 2003 Mar;78(3):186-92. [Content Brief]

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