http://www.raredr.com/conferences/acmg2017/confessions-of-a-pku-cheater
Confessions of a PKU Cheater

Erin Gisler




Erin Gisler, a lost to follow-up PKU patient, talks about her years of being non-compliant to treatment.
 
Phenylketonuria (PKU) is a rare genetic disorder that causes a build up of phenylalanine in the body. People with PKU need to follow a strict diet that limits phenylalanine, an amino acid present in most proteins. As Erin notes in this interview, adhering to that strict diet can be difficult.

 
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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