TY - CHAP M1 - Book, Section TI - Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle A1 - Kerr, Douglas S. A1 - Bedoyan, Jirair K. A2 - Sarafoglou, Kyriakie A2 - Hoffmann, Georg F. A2 - Roth, Karl S. Y1 - 2017 N1 - T2 - Pediatric Endocrinology and Inborn Errors of Metabolism, 2e AB - Disorders of pyruvate metabolism and the tricarboxylic acid (TCA) cycle represent a major subset of other recognized disorders of energy metabolism, including a large number of defects of the mitochondrial electron transport chain (ETC) and oxidative phosphorylation (see Chapter 11) along with defects of fatty acid β-oxidation and gluconeogenesis. Many of these defects of energy metabolism are associated clinically with lactic acidemia. Inherited disorders of pyruvate metabolism, gluconeogenesis, the TCA cycle, ETC, and oxidative phosphorylation are commonly referred to as primary genetic lactic acidemias. Other groups of genetic disorders can also lead to lactic acidemia, especially during states of severe metabolic decompensation, and are commonly referred to as secondary genetic lactic acidemias, including defects of fatty acid β-oxidation and organic acid catabolism. In addition, lactic acidemia is commonly caused by a range of acute or chronic acquired conditions that produce impaired peripheral oxygenation. Clinical differentiation among the primary genetic lactic acidemias, secondary lactic acidemias, and acquired conditions associated with ischemia or hypoxemia is not simple and ultimately may require detailed metabolic, enzymatic, and/or genetic testing. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1140315228 ER -