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The FDA recently approved a new enzyme substitution therapy

Jun 20, 2018

Late last month the U.S. Food and Drug Administration approved a new enzyme substitution therapy for adults with a rare and serious genetic disease known as phenylketonuria or PKU.  


PKU affects about 1 in 10,000 to 15,000 people in the United States. And Dr. William Rizzo, professor of pediatrics at UNMC’s Munroe Meyer Institute, says this new treatment will change lives. 

That’s good for Dr. Jennifer Harney who was diagnosed at birth with PKU.  Harney participated in a clinical trial for three years headed by Dr. Rizzo. 

Harney explains the new therapy has given her significantly improved energy and mental activity.  She says her diet has also normalized as a result of the therapy.

"So I’ve been able to eat things I never thought possible like chicken, meat, fish, dairy, cheese, breads, everything. So my world has been opened and it’s really done wonders for what I can eat, where I can go, if I can eat out, when I travel and it’s helped bring my levels down to a really good range. Ranges where it’s been a struggle to keep them on my own with just diet and special ordered foods alone, so it’s really been life changing.”

Rizzo says all babies in the U.S. are screened at birth for PKU due to its severe consequences on the brain.

Patients with PKU are born with the inability to break down phenylalanine, an amino acid present in protein-containing foods and high-intensity sweeteners used in a variety of foods and beverages.

Dr. Rizzo said he will now be able to prescribe the FDA-approved enzyme therapy for those patients who want it.