http://www.raredr.com/conferences/acmg2017/tips-pku
Tips for Clinicians and Dietitians Managing Late to Follow-up PKU Patients

Erin Gisler



Erin Gisler, a late to follow-up phenylketonuria (PKU) patient, provides some tips to clinicians and dietitians who are managing young adults returning to the PKU clinic after years of not going. As Erin explains, these patients are seeking help but at the same time, they may not be very compliant. 
 
PKU is an inborn error of metabolism resulting in persons have a low levels of the enzyme phenylalanine hydroxylase which in turn leads to a buildup of dietary phenylalanine to potentially toxic levels. 
 
Treatment is a diet low in foods that contain phenylalanine and special supplements. Because it is a strict and expensive diet, there are compliance issues – especially with teenagers and young adults.

This interview was made possible by a sponsorship from BioMarin Pharmaceutical Inc. Rare Disease Report has sole control over the editorial content.
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