Organic Acidurias and Related Abnormalities

Abstract

Organic acid analysis is a powerful technique in the diagnosis of inborn errors of metabolism. Since the development of the technique over twenty-five years ago, it has evolved into a sophisticated and powerful method and is an essential tool in the diagnosis of the organic acidurias. The chemistry and biochemistry of organic acids, as well as sample preparation, instrumentation, and many aspects of the more commonly used methods for the analysis of these compounds, are reviewed. The biochemical 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.

Key Words::

• mass spectrometry
• organic acid
• organic aciduria
• inborn errors of metabolism
• gas chromatography
• diagnosis