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  • Title: Congenital lactic acidosis: evaluation of the properties of the a199t natural variant of human pyruvate dehydrogenase e1alpha by in vitro mutation.
    Author: Wu YG, Widjaja SL, Huang CY, Li W, Nixon PF, Duggleby RG.
    Journal: Mol Genet Metab; 2001 Mar; 72(3):269-72. PubMed ID: 11243735.
    Abstract:
    One cause of congenital lactic acidosis is a mutation in the E1 alpha-subunit of the pyruvate dehydrogenase multienzyme complex. Little is known about the consequences of these mutations at the enzymatic level. Here we study the A199T mutation by expressing the protein in Escherichia coli. The specific activity is 25% of normal and the K(m) for pyruvate is elevated by 10-fold. Inhibitors of lactate dehydrogenase might be a useful therapy for patients with such mutations.
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