Luckily, newborn screening in the United States tests for PKU, which in most cases catches the disease very early on in a child’s life. From this point on, the individual with PKU will be committed to a very limited, low protein and specialized medical food diet for the rest of their life.

On a regular basis, the individual with PKU will send in blood samples to be tested for levels of Phe, if the levels are too high or too low, diet adjustments will need to be made in order to return to ideal Phe levels. Over time, the individual will learn to effectively manage their diet in relation to Phe level and will live everyday life within the parameters of their low protein diet.

As everyone still needs to consume protein, those with PKU must find sources of protein that lack Phe, the only way to accomplish this is through specially created medical formulas. The formula consumption begins as early as possible and continues throughout the individual’s life.

Outside of the learning curve and obvious complications that the low protein diet presents, the financial costs of living with PKU can greatly complicate each PKU family’s situation.

Currently, only some states in the USA allow for insurance coverage of the medically necessary formula that PKU patients must use for life, and even fewer states cover costs associated with specially made low protein foods for these individuals (pastas, breads, imitation eggs, chicken and burger, etc.) The out of pocket costs for these specialty medical foods are up to eight times more expensive than normal groceries.

There is currently one type of medication available to all PKU patients that can assist them with metabolizing Phe, thereby increasing their daily protein tolerance, but it is only effective on roughly 30% of PKU patients. Studies and medical developments are ongoing to assist in finding a more effective treatment that will benefit the PKU community as a whole.