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Organic Acid Metabolism: Genetic Disorders

  1. Bruce A Barshop

Published Online: 3 MAY 2005

DOI: 10.1038/npg.els.0002288

eLS

eLS

How to Cite

Barshop, B. A. 2005. Organic Acid Metabolism: Genetic Disorders. eLS. .

Author Information

  1. University of California, San Diego, California, USA

Publication History

  1. Published Online: 3 MAY 2005

Abstract

Disorders of organic acid metabolism result from deficiencies in enzymes involved in terminal steps of amino acid, fatty acid, and carbohydrate metabolism, causing a number of serious multi-system symptoms. Management of these conditions may be life-saving, and their study has yielded invaluable information about metabolic processes in man.

Keywords:

  • human metabolism;
  • human genetics