Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage

@article{Woolf1975PhenylketonuriaAA,
  title={Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage},
  author={Louis I. Woolf and M S McBean and F. M. Woolf and S. F. Cahalanf},
  journal={Annals of Human Genetics},
  year={1975},
  volume={38}
}
Mothers of children with phenylketonuria have a significantly lower miscarriage rate than a matched control population in Ireland and west Scotland. This protective effect of the gene against some factor causing foetal death would seem to constitute a heterozygote advantage which might account for the previously observed polymorphism for phenylketonuria. It is suggested that the decrease in foetal mortality is mediated by the higher concentration of phenylalanine in the heterozygous mother's… 
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The high frequency of phenylketonuria in Ireland and Western Scotland
  • L. Woolf
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    Journal of Inherited Metabolic Disease
  • 2005
TLDR
The PKU gene frequency and the incidence of the disease may be rising in Ireland and Western Scotland; the rates of rise can be calculated from the equation in Table 2.
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