Related Experiment Video
Updated: Jun 20, 2026

Quantifying Tissue-Specific Proteostatic Decline in Caenorhabditis elegans
Published on: September 7, 2021
How individuals with phenylketonuria experience their illness: an age-related qualitative study
1Chair of Medical Psychology, San Paolo Hospital, University of Milan, Milan, Italy. elena.vegni@unimi.it
Background:
The aim of the study was to explore the illness experience of individuals affected by phenylketonuria (PKU) and its differences in different patient age groups.
Methods:
A qualitative-interpretative methodology was used through in-depth interviews. Textual data were explored using the principles of grounded theory.
Results:
Forty-seven patients participated in the study, aged from 10 to >25 years old. The results suggested the age-related PKU experience: (1) a paradox, either to feel normal but isolated from the social context, or to be different while participating in the convivial aspects of the social being; and (2) the need for education about the disease tailored to the individual and growing needs. Specific themes seem to characterize each age range.
Conclusions:
This study constitutes a first attempt at understanding PKU from a non-medical-biological perspective.
Related Concept Videos
Inborn Errors of Metabolism
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
Pedigree Analysis
Chronic Kidney Disease III: Interprofessional Care
