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PKU Patients Could Have More Food Options

July 24, 2007, 3:18 PM by Katie Janssen

PKU Patients Could Have More Food Options
Every newborn in the United States is tested for a condition called PKU or phenylketonuria --a metabolic disorder where the body can't break down protein. One in 10,000 Americans has it, and are forced to control the disorder with a strict diet. But now, a new drug may give KELOLAND patients a little more freedom. 

Amber Dissing's getting pretty good at managing her PKU. At just 12-years-old, she's had to explain it to a lot of people. Dissing says, "I just say, it's something I got when I was born, and I have to eat stuff that normal people could eat but they probably wouldn't like it." 

She has to get her protein from a formula every day, since she can't get it from food. She says, "I can't eat meat, cheese, eggs, all that stuff." Her doctor, Dr. Laura Davis-Keppen of Sanford Health adds, "People with this condition need to have a special kind of protein that doesn't contain the amino acid phenylalanine, since they can't break that down." 

If PKU isn't controlled, that amino acid can build up in the brain, essentially poisoning it. The condition can cause mental retardation and epilepsy. In fact, since newborn screenings began in the ‘60s, rates of both have gone down significantly. 

For years, the key has been the strict diet, but now doctors at Sanford Health are studying a new drug that could change patients' quality of life. Davis-Keppen says, "Instead of altering the diet, it's trying to wake up the enzyme. It's giving the co-enzyme that works with the enzyme." 

Which could give Amber more freedom to eat the foods she's never been able to before. Her mom, Cyndi Dissing says, "Especially at this age, pre-adolescence, you kind of want to test things a little bit, so she's snuck a few foods she shouldn't have and tried them." Amber adds, "It sort of affects me, but not that much. I get really anti-sociable." 

But soon, Amber may not have to sneak anything, and she won't have to feel like an outcast because she can't eat like everyone else.   She says, "Well, if it works, I'm looking forward to eating a lot more, and maybe I can have less formula." 

The food she can't wait to eat--ice cream. 

There are about 15 people participating in the Sanford study, and about 500 nationwide. Doctors say even with the new medication, patients will have to watch their diets, and they still won’t be able to eat like those who aren’t affected by PKU. 

PKU Drug Expanded Access Program

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