A Pilot Study on the Attitudes of Management Practices in Adults with PKU

Phenylketonuria (PKU) is a genetic disorder caused by the deficiency of the enzyme, phenylalanine hydroxylase. Phenylalanine accumulation in brain causes cognitive impairment and behavioral problems, which can be prevented by dietary restriction of phenylalanine. People with PKU have to maintain a highly restrictive low protein diet throughout their entire life. PKU is typically diagnosed at birth through newborn screening. In order for a patient to reach their optimal IQ and health status, they need to maintain their blood phenylalanine (phe) level within the recommended range of 60-360 µmol/L. The purpose of this study is to investigate attitudes of adults diagnosed with phenylketonuria (PKU) and how they relate to their actions of management therapy recommendations. Adults with PKU completed an online survey through Survey Monkey. After receiving consent via email, the survey link was sent to them so they completed it at their convenience. The study asked questions such as, how often they tested their blood phe level and compared that to how often their clinic recommends getting tested. Then subjects were asked on a scale of one to five (with five meaning they strongly agree) if they agreed that getting their blood phe level tested as often as their clinic recommends is important. From the data we gathered information about different management practices, the perceived importance of certain dietary management practices, and whether certain factors, such as relationships between patient and clinic influence dietary management. There was no set universal method for counting phe intake. While there are three main methods, the two that were used the most were by counting exactly using milligrams (mg) of phe and the other was an estimation of counting in grams of protein. It was also found that the relationship with the clinic may have an impact on dietary management. Patients who had a good relationship with their clinic were more likely to follow their daily protein restriction, test their blood phe level more often, and realize the importance of testing their blood phe level as often as their clinic recommends. Advisors: Kaye Stanek-Krogstrand and Wanda Koszewsk