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

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. Front Matter....Pages i-xiii Introduction....Pages 1-8 Front Matter....Pages 9-10 Extraction of organic acids from physiological fluids....Pages 11-26 Derivatives of organic acids....Pages 27-45 Separation, quantification and identification....Pages 46-82 Gas chromatography-mass spectrometry....Pages 83-127 Volatile carboxylic acids....Pages 128-135 Back Matter....Pages 136-160 Front Matter....Pages 161-162 Organic acids in blood and urine from normal healthy adults and children....Pages 163-195 Organic acids in physiological fluids other than urine and blood....Pages 196-203 Back Matter....Pages 204-208 Front Matter....Pages 209-209 Organic acids in the study of metabolic diseases....Pages 211-238 Disorders of branched-chain amino acid metabolism....Pages 239-295 Disorders of propionate and methylmalonate metabolism....Pages 296-331 Specific causes of congenital keto acidosis in infants....Pages 332-337 Disorders of L -lysine metabolism....Pages 338-349 The dicarboxylic acidurias....Pages 350-382 Congenital lactic acidurias and disorders of pyruvate metabolism....Pages 383-404 Organic acidurias due to disorders in other metabolic pathways....Pages 405-445 Erratum....Pages 524-524 Back Matter....Pages 447-523