Inherited Metabolic Disease in Adult Services: Nutritional Continuity After Paediatric Transition
DOI:
https://doi.org/10.5281/zenodo.22302447Keywords:
Inherited metabolic disease, Phenylketonuria, Transition, Dietary adherence, Continuity of careAbstract
Dietary treatment for inherited metabolic disease is now recommended for life, and the population reaching adult services is
growing. The evidence supporting lifelong treatment is not distributed evenly across the lifespan. In phenylketonuria, the
childhood relationship between phenylalanine exposure and cognitive outcome rests on a meta-analysis across 40 publications, in
which each 100 umol/L difference from birth to 6 to 12 years predicted 1.3 to 3.1 IQ points. The adult recommendation rests on a
follow-up comparing 17 adults who remained on diet through adolescence, median phenylalanine 496 to 707 umol/L, against 18
who relaxed it after age 10, median 750 to 1038. A cohort of 55 patients followed for two years either side of transfer to adult care
reported the programme a success: only 6 per cent were lost to follow-up and clinic attendance rose from a median of 5
appointments to 11. Over the same period the proportion of samples below 480 umol/L fell from 51 to 37 per cent. Attendance and
metabolic control moved in opposite directions, and the service metric captured the first.
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