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© 2004 The American Society for Nutritional Sciences J. Nutr. 134:1600S-1604S, June 2004


Supplement: 3rd Amino Acid Workshop

Pharmacogenetics and Individual Variation in the Range of Amino Acid Adequacy: The Biological Aspects1

John Caldwell2

The University of Liverpool, Liverpool L69 3GA, UK

2 To whom correspondence should be addressed. E-mail: jcc{at}liv.ac.uk.

There have been major developments in our understanding of the ways in which genetic variation among individuals in a population can affect responses to drugs, and use of such information can improve the safety and efficacy of medicines. The brief review summarizes the emergence of modern pharmacogenetics, illustrating the importance of the field using the CYP 2D6 polymorphism as a paradigm. These pharmacogenetic polymorphisms are compared and contrasted with the long-established inborn errors of amino acid biochemistry, exemplified by phenylketonuria, suggesting ways in which the approaches of pharmacogenetics might inform the safe and effective use of amino acids as food additives and supplements.


KEY WORDS: • pharmacogenetics • CYP 2D6 • debrisoquine • adverse drug reactions • amino acidurias • phenylketonuria • inborn errors of amino acid biochemistry







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