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    Chapter

    Disorders of the Pyruvate Metabolism and the Krebs Cycle

    This chapter focuses on pyruvate metabolism disorders, two classic Krebs cycle disorders (2-oxoglutaric aciduria and fumarase deficiency) and two other disorders of the Krebs cycle, severely affecting mitochon...

    Eva Morava, Linda de Meirleir… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

    Owing to the role of pyruvate and the TCA cycle in energy metabolism, as well as in gluconeogenesis, lipogenesis and amino acid synthesis, defects in pyruvate metabolism and in the TCA cycle almost invariably ...

    Linda de Meirleir, Angels Garcia-Cazorla, Michèle Brivet in Inborn Metabolic Diseases (2016)

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    Chapter

    Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency

    Pyruvate carboxylase and pyruvate dehydrogenase deficiency are the most common disorders in pyruvate metabolism and almost always affect the central nervous system. The severity and the clinical phenotypes var...

    Linda De Meirleir in Physician's Guide to the Diagnosis, Treatm… (2014)