Organic Acids in Man

1 Introduction.- References to Preface and Chapter 1.- I: Methods.- 2 Extraction of Organic Acids from Physiological Fluids.- 2.1 Urine (and other protein-free fluids).- 2.2 Other physiological fluids.- 3 Derivatives of Organic Acids.- 3.1 Derivatives of carboxylic acids and hydroxy acids.- 3.2 Derivatives of oxo acids.- 4 Separation, Quantification and Identification.- 4.1 Paper and thin-layer chromatography.- 4.2 Liquid (column) chromatography.- 4.3 Gas-liquid chromatography.- 5 Gas Chromatography-Mass Spectrometry.- 5.1 Instrumentation.- 5.2 Specialized MS techniques.- 5.3 Mass spectra of organic acids and their derivatives.- 6 Volatile Carboxylic Acids.- 6.1 Extraction of C1-C5 acids from physiological fluids.- 6.2 Gas-chromatographic determination of free C1-C5 acids.- 6.3 Gas-chromatographic determination of esters of C1-C5 acids.- References to Part I.- II: Organic Acids in Physiological Fluids from Normal Subjects.- 7 Organic Acids in Blood and Urine from Normal Healthy Adults and Children.- 7.1 Organic acids observed and quantified prior to GC-MS.- 7.2 Organic acids observed in blood and urine using GC-MS.- 7.3 Concentrations of organic acids in urine.- 7.4 Concentrations of organic acids in blood.- 7.5 Volatile C1-C6 organic acids in blood and urine.- 7.6 Effects of diet, individual variation, drugs and artifacts on the apparent excretion of urinary organic acids.- 8 Organic Acids in Physiological Fluids Other than Urine and Blood.- 8.1 Amniotic fluid.- 8.2 Cerebrospinal fluid.- 8.3 Saliva.- 8.4 Other fluids.- References to Part II.- III: Organic Acids in Human Metabolic Diseases (The Organic Acidurias).- 9 Organic Acids in the Study of Metabolic Diseases.- 9.1 Introduction.- 9.2 The acutely ill newborn and infant: screening for the organic acidurias.- 9.3 The prenatal diagnosis of the organic acidurias.- 9.4 Treatment of the organic acidurias.- References.- 10 Disorders of Branched-Chain Amino Acid Metabolism.- 10.1 Introduction.- 10.2 Disorders affecting all three branched-chain amino acids: Branched-chain keto aciduria (maple syrup urine disease).- 10.3 Disorders of l-leucine metabolism.- Isovaleric acidaemia.- 3-Methylcrotonylglycinuria with 3-hydroxyisovaleric aciduria.- 3-Methylglutaconic aciduria.- 3-Hydroxy-3-methylglutaric aciduria.- 10.4 Disorders of l-isoleucine and l-valine metabolism.- 2-Methylacetoacetyl-CoA thiolase deficiency.- References.- 11 Disorders of Propionate and Methylmalonate Metabolism.- 11.1 Propionic acidaemia.- 11.2 The methylmalonic acidurias.- References.- 12 Specific Causes of Congenital Keto Acidosis in Infants.- 12.1 Succinyl-CoA:3-keto acid-CoA transferase deficiency.- 12.2 Acetoacetyl-CoA thiolase deficiency.- 12.3 Biochemistry of congenital keto acidosis.- References.- 13 Disorders of l-Lysine Metabolism.- 13.1 2-Ketoadipic aciduria.- 13.2 Glutaric aciduria (glutaryl-CoA dehydrogenase deficiency).- References.- 14 The Dicarboxylic Acidurias.- 14.1 Oxidation of fatty acids in man.- 14.2 Congenital dicarboxylic acidurias.- 14.3 Systemic carnitine deficiency.- 14.4 Abnormal organic aciduria due to toxins.- References.- 15 Congenital Lactic Acidurias and Disorders of Pyruvate Metabolism.- 15.1 Introduction: Normal metabolism of pyruvate and lactic acid production in man.- 15.2 Lactic acidosis and lactic aciduria due to uninherited disorders in the newborn and infant.- 15.3 Lactic aciduria as a secondary phenomenon in other organic acidurias.- 15.4 Disorders of pyruvate dehydrogenase and of the tricarboxylic acid cycle.- 15.5 Disorders of gluconeogenesis.- 15.6 Disorders of the respiratory chain.- References.- 16 Organic Acidurias due to Disorders in Other Metabolic Pathways.- 16.1 l-Pyroglutamic aciduria (5-oxo-l-prolinuria).- 16.2 d-Glyceric aciduria.- 16.3 Primary hyperoxaluria.- 16.4 d-Glucaric aciduria (saccharic aciduria).- 16.5 Disorders of aromatic amino and organic acid metabolism.- Disorders of l-phenylalanine metabolism: Phenylketonuria.- Disorders of l-tyrosine metabolism: tyrosinaemia, tyrosinosis, tyrosyluria.- References.- Appendix of Mass-Spectrometric and Gas-Chromatographic Data.