Dictionary of Human Evolution and Biology

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PKU, Maternal

For symptoms, see PKU (phenylketonuria), above. Adult females diagnosed with PKU as infants and who received prophylactic dietary intervention therapy and survived the critical developmental postnatal period without experiencing damage to their nervous systems frequently abandoned the dietary constraints in later life; the serum phenylalanine concentrations in these individuals increased dramatically but with no direct ill effects to themselves. However, these females subsequently produced a new generation of PKU-affected individuals. When pregnant, their second-generation fetuses (irrespective of genotype) were subject to the same cumulative effects of PKU on their developing nervous systems, even though the source was their mother’s serum. When such mothers are untreated during pregnancy, 95% of the resulting offspring are microcephalic and/or mentally retarded. Maternal PKU occurs only in societies where PKU has been treated by dietary management.

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