Organic Acid Metabolism: Genetic Disorders

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

Further Reading

Barshop BA (1996) Abnormalities of amino acid metabolism. In: Berg BO (ed.) Principles of Child Neurology pp. 997–1048. New York: McGraw‐Hill.

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.

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.

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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]