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This research study reviews quality of life issues among adult patients with phenylalanine hydroxylase deficiency (PAH deficiency), traditionally known as phenylketonuria (PKU). Though questionnaires and medical chart reviews, investigators will learn how PKU affects patients’ lives and how specific aspects of life with PKU compare to life without the rare inborn error of metabolism.
Subject to exclusion criteria, the study is accepting adult patients of both genders who have a confirmed diagnosis of PKU and those who do not.
Men and Women: Ages 18 and up
Investigators will review patient medical record data from the prior 2 years and will collect information on blood phenylalanine levels going back to age 12, if available. Participants will complete an online survey using computers at the research clinic at Children’s Hospital of Pittsburgh of UMPC. Participants will also be asked to complete tasks on a tablet with a touch screen.
Duration: Not applicable
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
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UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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