Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH 4 )-responsiveness in patients with hyperphenylalaninemia.

Autor: Lampret BR; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana 1000, Slovenia., Tansek MZ; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana 1000, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana 1000, Slovenia., Groselj B; Faculty of Medicine, University of Ljubljana, Ljubljana 1000, Slovenia.; Institute of Oncology Ljubljana, Ljubljana 1000, Slovenia., Sikonja J; Faculty of Medicine, University of Ljubljana, Ljubljana 1000, Slovenia., Battelino T; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana 1000, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana 1000, Slovenia., Groselj U; Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana 1000, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana 1000, Slovenia.
Jazyk: angličtina
Zdroj: Data in brief [Data Brief] 2022 Feb 04; Vol. 41, pp. 107926. Date of Electronic Publication: 2022 Feb 04 (Print Publication: 2022).
DOI: 10.1016/j.dib.2022.107926
Abstrakt: Blood phenylalanine-to-tyrosine (Phe/Tyr) ratio is an important indicator of metabolic control in phenylketonuria patients. We present the data that highlights the role of Phe/Tyr-ratio in the evaluation of tetrahydrobiopterin (BH 4 )-responsiveness in patients with hyperphenylalaninemia. Our data complements the results from the original research article by Tansek et al., 2012 [1]. We performed a BH 4 -loading test in 32 patients after four days of increased protein intake (2000 mg/kg body weight). Blood sampling was performed 96, 72, 48, 24, 16 h, and moments before oral administration of BH 4 in a dose of 20 mg/kg body weight. Additional blood samples were collected 8 and 24 h after its administration. Phenylalanine (Phe) and Tyrosine (Tyr) levels were determined from dried blood spots by tandem mass spectrometry. Phe/Tyr-ratio reached a plateau after three days of increased dietary protein intake. Fifteen patients (47%) responded to BH 4 , defined as a decrease of Phe-of at least 30% after 24 h of BH 4 administration. Phe/Tyr-ratios were significantly higher in non-responders compared to responders. In the responder group, Phe/Tyr-ratios decreased in average of 67% ( p  = 0.001) and 45% (p = 0.001) after 8 and 24 h of BH 4 administration, respectively. Phe/Tyr-ratio decreased after 8 h of drug administration also in the non-responder group, but not 24 h after administration.
Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.the authors declare the following financial interests/personal relationships which may be considered as potential competing interests:
(© 2022 The Author(s).)
Databáze: MEDLINE
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