The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening.

ABSTRACT:

Background

Those diagnosed with PKU in the early years of newborn screening (NBS) were often discharged from clinic in childhood. Long-term lost to clinic patients may be impacted by untreated PKU and uninformed about current recommendations. We aimed to contact adults away from clinic for 5-50+ years, share current recommendations, offer clinical care, and elicit factors underlying not returning to clinic.

Methods

Former patients were identified and offered a virtual meeting with a physician and dietitian for structured interview and education about current guidelines and treatments.

Results

We identified 53 eligible patients who had PKU and had not returned to clinic in ≥5 years. Of those 53, 27 were successfully contacted, 16 completed the educational intervention,

SUBMITTER: Sacharow S 

PROVIDER: S-EPMC11219965 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature