Future developments in phenylketonuria

Treatment of classical phenylketonuria (PKU) is very good, but problems still exist in regard to the duration of treatment and a means of ensuring that all women with PKU recommence dietary treatment before becoming pregnant. A 'one-shot' cure of the disease remains desirable and may become available in the more distant future by somatic cell gene therapy. Insertion of a normal gene or correction of the defective gene at the normal site in the chromosome and in liver cells is likely to be necessary both technically and ethically. Prevention by prenatal diagnosis is not widely accepted in Australia and is likely to have little effect on the frequency of the disease.