Rare genetic disorder leads Holladay family to healthy eating habits

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  • Eliot Santaquin, UT
    Dec. 3, 2012 1:12 p.m.

    This is a very informative article on PKU which is one of the best examples of the benefits of metabolic screening of newborns. Genetic testing can also be done on prospective parents to determine if they are carriers. One part of this article that needs to be clarified are the reported probabilities. It is true that 1/50 people in North America are carriers but the frequency varies dramatically between racial groups. For instance, people of European ancestry are much more likely to carry the mutant gene than people of African ancestry. It is also true that each person is a carrier for about 50 different mutant genes but that doesn't help us determine the probability of two PKU carriers coming together to have children. Assuming both parents are of European ancestry, the probability of both being carriers is 1/50 x 1/50 = 1/2500. If 1/4 of their children will inherit the mutant gene from each parent then the probability of inheriting the disorder is 1/2500 x 1/4 = 1/10000. The National PKU Alliance reports a frequency of 1/10000 to 1/20000 for Caucasians and Orientals in the US.

  • cuttinocat5 Seattle, WA
    Dec. 3, 2012 12:02 p.m.

    Great article! My wife and I are native Utahns living in Seattle, and we have a wonderful son who was diagnosed with PKU in January of 2012 (he's about 11 months old now). Articles like this are great for increasing PKU awareness and will ultimately make our PKU kids' diets and lifestyles easier. We are incredibly grateful for the wonderful staff at the University of Washington for their constant care and concern for our little boy (I'm sure that the staff at the U are also excellent). He is developing with no adverse effects whatsoever and you would never know that he (well, right now, his parents) has to be so careful with what he eats and in what amounts.

  • andyjaggy American Fork, UT
    Dec. 3, 2012 9:59 a.m.

    What really got me was the limited spices and seasoning. Ouch. I could go meat/dairy/egg free if I had to, but I don't think I could give up my spices.