Living with PKU
PKU is a lifelong disease without a cure, however treatment is available to reduce the impacts of the disease. There are four different tolerances of protein intake that impact how much protein each PKU affected person can consume in a day, which is somewhere between Classical PKU & Hyper PKU. While clinically these terms are not often used any longer, the primary four are:
Hyperphenylalaninemia: the lowest level above normal
Mild PKU: blood levels are mildly elevated
Moderate or variant: levels are not low but not high
Classic PKU: blood levels of phenylalanine are high
Treatment Approach & Goals
Treatment approach will depend on how severe your PKU condition is, or how high the Phe levels are, learn more here on the levels of severity. The goal of treatment is to keep blood levels of phenylalanine low, which is primarily achieved by keeping protein intake low through a severely restricted diet and medications.
Regular blood tests are required, some PKU’ers require daily tests, weekly, or semi-monthly to ensure their diet, medications, & overall management of the disease is being properly managed. These tests are done at home via a heel, toe, or finger stick where several drops of blood are then placed on a filter card that is sent into a genetic lab specializing in PKU testing to evaluate it. These tests along with detailed diet logs kept by the PKU’ers are analyzed by a team of genetic specialists to help manage adjustments to diet & medications.
The first line of treatment includes a low-protein diet. Infants may need special formula to control the amount of protein they eat. As the child grows older, he or she may need to use a medical formula supplement to ensure that they are getting enough protein due to so much protein being reduced in regularly consumed foods. Vegetarian, vegan, and medical food diets are the typical foundation to further reduce protein amounts in daily eating. Variety of foods can be very challenging, especially in younger children where pickiness narrows options when meat or fish are not possible.
Medications and enzyme replacement therapy help the body to break down phenylalanine, or to help the body tolerate it better. Depending on the impacted person’s genetic make-up they may or may not be receptive to leading medications resulting in much stricter diets and medical food reliance. For those receptive to medication, Kuvan is prescribed from infancy through any age, although many late year teenagers are starting to take Palynziq. Learn more here on each of these leading treatments for PKU.