Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult Team

We aimed to report the implementation of a phenylketonuria (PKU) transition program and study the effects of follow-up with an adult team on metabolic control, adherence, and loss of follow-up. Fifty-five PKU patients were analysed in the study periods (SP): 2 years before (SP1) and after the beginning of adult care (SP2). Retrospective data on metabolic control and number of clinic appointments were collected for each SP, and protein intakes were analysed. In SP2, three patients (6%) were lost to follow-up. There was a small but statistically significant increase in median number of annual blood spots from SP1 to SP2: 11 (7-15) vs. 14 (7-20); p = 0.002. Mean +/- SD of median blood Phe remained stable (525 +/- 248 mu mol/L vs. 552 +/- 225 mu mol/L; p = 0.100); median % of blood Phe < 480 mu mol/L decreased (51 (4-96)% vs. 37 (5-85)%; p = 0.041) and median number of clinic appointments increased from SP1 to SP2: (5 (4-6) vs. 11 (8-13); p < 0.001). No significant differences were found regarding any parameter of protein intake. Our results suggest that the implementation of an adult service was successful as impact on metabolic control was limited and attendance remained high. Continuous dietetic care likely contributed to these results by keeping patients in follow-up and committed to treatment.

Automated summary

The study focused on reporting the implementation of a phenylketonuria (PKU) transition program and studying the effects of follow-up with an adult team on metabolic control, adherence, and loss of follow-up. The results showed a slight increase in the number of annual blood spots, stable blood Phe levels, and an increase in clinic appointments after the implementation of an adult service. Continuous dietetic care likely contributed to keeping patients in follow-up and committed to treatment.