Organic Acid Metabolism: Genetic Disorders

Bruce A Barshop, University of California, San Diego, California, USA

Published online: May 2005

DOI: 10.1038/npg.els.0002288

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

 Further Reading
    book Barshop BA (1996) "Abnormalities of amino acid metabolism". In: Berg BO (ed.) Principles of Child Neurology pp. 997–1048. New York: McGraw-Hill.
    book Haas RH and Marsden DL (1996) "Disorders of organic acids". In: Berg BO (ed.) Principles of Child Neurology pp.1049–1089. New York: McGraw-Hill.
    book Scriver CR, Beaudet AL, Sly WS and Valle D (eds) (1995) The Metabolic and Molecular Bases of Inherited Disease 7th edn. New York: McGraw-Hill.

Related Sub-Topics:

Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease | Biomolecular Interactions | Other Biomolecules: Structure, Function, Metabolism | Enzymes: Structure and Action Mechanism
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Article Title: Organic Acid Metabolism: Genetic Disorders
 
How to Cite close
Barshop, Bruce A(May 2005) Organic Acid Metabolism: Genetic Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002288]