Every program working with the growing problem of women with PKU who are pregnant has stories describing the huge amount of time and effort needed to manage these complex pregnancies. The Alabama Inborn Errors Clinic at the University of Alabama at Birmingham has worked with six women in the past several years.
Perhaps the all too typical story is highlighted in one woman who was raised on a farm in outstate Alabama. The fact that she had PKU was identified only after the birth of her first child who had severe microcephaly. The mother had a high school degree and had not been identified by her school or her parents as mentally retarded. After delivering her child who has spastic cerebral palsy, she tried the diet for a short time without successfully lowering her blood phenylalanine levels. How many more children can she (or we) expect?
Another woman was identified to have hyperphenylalaninemia and tried to maintain a low phenylalanine diet during her pregnancy although she had never been on the diet before. Anyone who has ever tried 24 hours of the diet knows how unpalatable it is. Unfortunately, this creative lady found the taste of the formula so bad that she came up with the idea of mixing the phenylalanine-free formula with milk and ice cream to improve the taste!! Unfortunately, her infant was born with craniostenosis that required surgery. As with so many of our patients, both the mother and child have been lost to followup.
Finally, consider the woman who was able to return to her PKU diet while holding down a job and taking college classes. She lowered her blood phenylalanine levels prior to conception and has kept the level in the recommended range throughout her first trimester. At least we finally can hope, that such efforts will result in normal infants.
