Adult Patients with Well-Controlled Phenylketonuria Tolerate Incidental Additional Intake of Phenylalanine

作者：van Rijn Margreet^*; Hoeksma Marieke; Sauer Pieter J J; Modderman Pim; Reijngoud Dirk Jan; van Spronsen Francjan J

来源：Annals of Nutrition and Metabolism, 2011, 58(2): 94-100.

DOI：10.1159/000324924

• Phenylketonuria
• Phenylalanine
• Blood phenylalanine concentration
• Phenylalanine intake

Background/Aims: In patients with phenylketonuria (PKU), target ranges of blood phenylalanine (Phe) concentrations have been tightened in order to improve long-term outcomes. We investigated day-to-day and week-to-week variations in blood Phe concentration and the effect of an additional Phe load. Methods: We performed a longitudinal study in 6 adult PKU patients. The study was divided in five 7-day periods: 1 period without any intervention (period I) and 4 periods with a Phe load on day 3 equivalent to 100% (periods II and III) and to 200% (periods IV and V) of each patient's individual daily Phe intake. Phe loading was given as encapsulated L-Phe. Blood spots to measure blood Phe concentration were taken each morning before breakfast in all periods. Results: Day-to-day and week-to-week blood Phe concentrations varied considerably with and without intervention in Phe intake. Equal loads of Phe did not result in comparable effects in blood Phe concentrations in all patients. In periods II-IV, mean blood Phe concentrations of days 1-3 (pre-load) were not significantly different from days 4-7 (post-load). The 200% load resulted in a significantly larger variation. Conclusion: These results showed that patients with well-controlled PKU can incidentally tolerate 100% - and in some cases 200% - of their normal daily Phe intake.

• 出版日期2011