SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, The Netherlands, 3–6 September 2019, Rotterdam, Hollanda, 3 - 06 Eylül 2019, ss.88
Background: Phenylketonuria (PKU) is treated with a low phenylalanine (Phe) diet but strict dietary adherence is bur- densome. Sapropterin responsive patients with PKU have an improved Phe tolerance and thereby patients eat more natu- ral protein and reduce or even eliminate the use of ‘Foods for Special Medical Purposes’ (L-amino acid supplements and low protein foods). However, little is known about the use of Foods for Special Medical Purpose with sapropterin treatment in PKU. We report the results of an audit about the use of special medical foods in sapropterin responsive patients from European PKU centres.
Methods: A cross sectional survey was sent to 8 European PKU centers (all ENEP members). Specific questions were asked about the dietary management of sapropterin treated patients with PKU in the following age groups: 0-4y, 5-12y, 13-18y and >18y.
Results: 8 centers (8 countries) reported the dietary manage- ment of 291 patients who respond to sapropterin. More than half (n = 163, 56.0%) of the sapropterin treated patients achieved WHO/FAO/UNU (2007) safe levels of protein intake. Of 291 sapropterin responsive patients, 82 (28%) did not require a L-AA supplement and in the remaining patients L-AA dosage reduced by 60%. Only 26% (n = 75) used low protein milk, and 6% (n = 18) used low protein foods like bread and pasta. Only 30% of all sapropterin responders were prescribed a vitamin/mineral supplement.
Discussion: Over half of the sapropterin responsive patients were able to eat sufficient natural protein to cover minimal requirements. ‘Foods for Special Medical Purposes’ were reduced with nutrition being supplied from more natural food sources. However, there was low use of vitamin and mineral supplementation in sapropterin treated patients and so dietary intakes, nutritional biochemical status as well as metabolic control should be carefully monitored in order to optimise overall health outcomes.
Conflict of Interest declared.