Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition.

ABSTRACT:

Introduction

Adult care for individuals with phenylketonuria (PKU) remains limited, as many centers prioritize pediatric patients. Structured transition into adult care is essential to maintain metabolic stability, adherence, and monitor comorbidities - particularly psychiatric ones. This study evaluates metabolic control, quality of life (QoL), and the impact of psychiatric comorbidities in adults with PKU after transition.

Methods

This retrospective study included 45 adults with PKU assessed 4.5 years after entering adult care. Data from transition and annual follow-ups were analyzed. Phenylalanine (Phe) concentrations were assessed using venous blood samples and dried blood spots. Dietary habits and amino acid mixtures (AAM) intake were recorded via interviews. QoL was me

SUBMITTER: Albers A 

PROVIDER: S-EPMC12838461 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature