When all babies are born they receive a test for the disease, phenylketonuria, or PKU to detect an enzyme deficiency. This enzyme is used to break down phenylalanine, an amino acid present in foods that contain protein and high intensity sweeteners used in food and beverages. Unmanaged PKU can lead to neurological damage and intellectual impairments. Patients are required to follow a strict protein-free diet that excludes fish, meat, eggs, nuts and dairy products.
University of Nebraska Medical Center Physician Dr. Jennifer Harney was diagnosed with it at birth. She says, “Growing up meant a big adjustment to a normal diet. I’m limited in what I can eat to about 6 grams of protein a day. So that’s mostly fruits, vegetables and then special order medicines and foods that I get on the internet like pastas made out of corn starch instead of wheat starch.” She also had to drink a special kind of formula that gave her the amino acids needed that she couldn’t get from her diet.
Dr. Harney participated in a clinical trial at UNMC for a three year period where she received a new enzyme substitution therapy and says it significantly improved her energy and mental activity. “I’ve been able to include more dietary protein in what I eat and don’t need to restrict my meals so heavily. There’s several times in the past I would just skip meals if I was unable to eat what was provided.” She no longer needs to spend hours ordering, prepping and storing specially created foods. She says this has been a huge relief with an already busy schedule.
In May, the FDA approved Palynziq, the new enzyme substitution therapy for adults. Because there is a chance of serious risk to this treatment there are certain regulations that must be followed. Prescribers must be certified by enrolling in the REMS program and complete training. Pharmacies must be certified with the program and must dispense only to patients authorized to receive Palynziq. Patients must also enroll in the program and be educated about the risks and benefits of treatment.