Phenylketonuria and other inherited metabolic defects
- 9 November 2000
- book chapter
- Published by Oxford University Press (OUP)
Abstract
This chapter deals mainly with screening and diagnosis for phenylketonuria (PKU), but comments briefly on other inherited metabolic defects for which screening has been proposed. PKU is a disorder of amino acid metabolism due to failure of phenylalanine hydroxylation, which almost always results in severe mental retardation and retarded growth. Screening followed by treatment is effective in preventing these effects.Keywords
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