What Does 'Phenylketonurics: Contains Phenylalanine' Mean?

If you have ever purchased gum or soda that contains the artificial sweetener aspartame, you've seen the warning Phenylketonurics: Contains Phenylalanine. Phenylketonurics sounds like an alien race - surely they can't be human! Well, I happen to be the mom of a person with Phenylketonuria.

How Do You Know if You Have Phenylketonuria?

When my daughter was born, like all other babies her heel was pricked and a few drops of blood were whisked away to some unknown lab. A few days later, we got the call... "Your daughter may have some issues. We are sending you to Riley Children's Hospital in Indianapolis for further testing." Our hearts sank. Tears flowed. We immediately jumped on the internet to investigate what fate held for our child.

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What is PKU?

My daughter was diagnosed with Phenylketonuria (also called PKU). To sum it all up, PKU is a genetic metabolic disorder in which her little body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes mental and physical health problems.

What Do Phenylketonurics Eat?

We have to limit the amount of protein she ingests and because aspartame has high amounts of phenylalanine in it, the artificial sweetener is off-limits. Over a year later, my little Phenylketonuric is happy and healthy. She eats a diet similar to what most of us should eat - high in fruits, veggies, and super grains and low in meat. We sneak a hot dog now and then - she produces more of the enzyme needed to break down phenylalanine than some with PKU so occasional high protein days are okay.

https://depts.washington.edu/pku/about/diet.html
https://depts.washington.edu/pku/about/diet.html
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Can Phenylketonurics Lead a Normal Life?

We are grateful that we can control her disorder with diet and thankful to the folks at Riley for their kindness and expertise. She is lucky that her diet is pretty normal. Those who deal with Classic PKU, have to follow a much stricter diet and use replacement food that eliminates the phe. They also have to be careful since their diet consists mainly of carbs, and weight gain can be an issue. We go to church with a young man who was diagnosed with Classic PKU. He's happy, healthy, funny, and strong as an ox.

Recently, new pharmaceuticals have come on the market that also gives Phenylketonurics a chance at eating more of a normal balanced diet. And we were told that when and if my daughter ever decides to have a baby, she'll need to be closely monitored. According to rarediseases.org, "Untreated females with PKU who become pregnant are at high risk for having a miscarriage or problems with fetal growth (intrauterine growth retardation). Children of women with untreated PKU may have an abnormally small head (microcephaly), congenital heart disease, developmental abnormalities, or facial abnormalities. There is a strong relationship between the severity of these symptoms and high levels of phenylalanine in the mother. As a result, all women with PKU who have stopped treatment should resume treatment before conception and continue on it throughout pregnancy, managed by a metabolic geneticist and dietician."

The next time you see the Phenylketonurics: Contains Phenylalanine warning, think of a blond-headed baby girl, not an alien!

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