ORGANIC ACIDURIAS AND RELATED ABNORMAL

Organic acid analysis is a powerful technique in the diagnosis of inbo rn errors of metabolism. Since the development of the technique over t wenty-five years ago, it has evolved into a sophisticated and powerful method and is an essential tool in the diagnosis of the organic acidu rias. The chemistry and biochemistry of organic acids, as well as samp le preparation, instrumentation, and many aspects of the more commonly used methods for the analysis of these compounds, are reviewed. The b iochemical and clinical characteristics of each of the primary organic acidurias are described. In addition, the various noninherited causes of secondary organic acidurias that lead to the excretion of abnormal organic acids are also described, and ways of differentiating primary from secondary causes are discussed.