Vliet, N. van (Ninke) (2021) Phenylketonuria: Preliminary evidence of revision of the upper phenylalanine treatment targets in various age categories. thesis, Medicine.
Full text available on request.Abstract
In the inborn error of metabolism Phenylketonuria (PKU), phenylalanine can only partly be converted into tyrosine, leading to elevated blood and brain phenylalanine and decreased brain concentrations of other amino acids and their associated monoamine neurotransmitters. Currently, phenylalanine concentrations are used for treatment-monitoring, but there is little consensus worldwide on the optimal upper treatment targets. In this study, we aim to evaluate the current European treatment targets in various age groups. 16 PKU patients <12 years, 8 PKU patients 12-18 years, and 46 adult PKU patients from the database on cognitive, behavior, and social functioning (COBESO) received neurocognitive evaluation via questionnaires and the Amsterdam Neuropsychological Tasks (ANT). Before testing, venous blood was taken to measure a concurrent phenylalanine concentration. Next to this, data from the electronic patient files was used to obtain historical lifetime phenylalanine concentrations. Nonparametric Mann Whitney U and Kruskal Wallis tests, as well as Spearman correlation tests were performed to evaluate the current treatment targets based on neurocognition. Results showed that the upper treatment targets for PKU patients <12 years should at least remain as low as currently advocated. For patients >12 years old, results showed that higher phenylalanine concentrations provided benefit on neurocognitive outcome. More relaxed dietary control may therefore be safe in these patients. However, as the results did not appear to be clinically significant, this needs to be investigated further in larger sample sizes.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | Spronsen, prof. dr. F.J. van |
| Faculty: | Medical Sciences |
| Date Deposited: | 06 Jan 2022 11:23 |
| Last Modified: | 06 Jan 2022 11:23 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/2972 |
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