PEDIATRICS Vol. 41 No. 1 January 1968, pp. 155
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Children of Phenylketonuric Women

G. R. Fraser M.D., Ph.D.1

1 Department of Genetics, University of Adelaide, Adelaide, South Australia

I was interested to see the excellent report and review of cases of congenital malformations in offspring of phenylketonuric mothers by Drs. Stevenson and Huntley (Pediatrics, 40:33, 1967). It is becoming increasingly clear that, for reasons which are not entirely understood, a proportion of females who are homozygous for the gene causing phenylketonuria escape the worst effects of the condition and are able to live normal, married lives and to reproduce. It would seem clear also that the prognosis for their children is poor, presumably due to damage in fetal life due to the maternal disturbance of metabolism.