Organic Acids in Man: Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias

ISBN-13: 9789400957800 / Angielski / Miękka / 2011 / 523 str.

R. Chalmers

Opis

The writing of this book was prompted by the need for a comprehensive of current data on organic acids suitable for both newcomers and collection established researchers in this field. The only previous text of the kind was the excellent review by Nordmann and Nordmann (1961), and at that time the main method of analysis was paper chromatography with liquid chromatography being used in a limited way. Only three diseases in which organic acids accumulate were known (primary hyperoxaluria, phenylketonuria and alcaptonuria). Since then, with the development of gas chromatography and mass spectrometry, and the further development ofliquid chromatography, knowledge concerning the nature of the organic acids in physiological fluids has been greatly extended. At the same time, the number of organic acidurias has increased dramatically, there being now some 40-50 known diseases of this type. During the past 15 years or so, there have been several reviews, dealing with either specific diseases or groups of diseases (Gompertz, 1972, 1974; Tanaka, 1975), or presenting the proceedings of symposia (Stern and Toothill, 1972) or workshops (Marner et al. , 1974). This present text deals comprehensively and in detail with the organic acids in human physiological fluids in health and in disease states, and is particularly concerned with the methods necessary for their separation, determination and indentification.

Spis treści

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.