Maternal phenylketonuria, a syndrome sometimes shown by infants of mothers who are homozygous for the PKU gene. High concentrations of phenylalanine (PA) damage the developing brain, and over 90% of infants subjected to an in utero environment rich in PA are irreversibly retarded, irrespective of their genotypes. Therefore, it is essential that women with PKU who have gone off the low-phenylalanine diet return to it if they become pregnant. See 1954, Bickel, Gerrard, and Hickmans; phenylketonuria.
Subjects: Genetics and Genomics.