Indicators of blood biochemical analysis in PKU patients being on amino acid mixtures substitute nutrition

Authors

DOI:

https://doi.org/10.24959/ubphj.20.278

Keywords:

phenylketonuria, medical food products, orphan patients, amino acids

Abstract

Topicality. Phenylketonuria is a congenital pathology of amino acid metabolism, which is a rare (orphan) disease. Depending on the regions of the world and the ethnic origin of the inhabitants, its prevalence can vary from 1/2600 to 1/200000. Phenylketonuria is caused by a deficiency of liver enzyme phenylalanine hydroxylase, which catalyzes the hydroxylation of phenylalanine, resulting in the formation of tyrosine. Enzyme deficiency leads to hyperphenylalaninemia, and in the absence of adequate therapeutic measures will lead to profound and irreversible disability of the patient.

Aim. To conduct a comparative analysis of amino acid mixtures “Nutri-2”, “Nutri-3”, “PAM-2” and “PAM-3”, as well as to determine the biochemical parameters of the blood of four groups of patients on these diets according to their age needs.

Materials and methods. On the basis of Kharkiv interregional specialized medical-genetic center of rare (orphan) diseases, treatment of phenylketonuria with the use of amino acid mixtures was introduced and further biochemical analysis of patients’ blood was performed. The results of biochemical parameters of blood of four groups of heterosexual and different-aged patients on different amino acid mixtures were taken for the study. The study involved 16 patients of different sexes aged 4 to 29 years.

Results and discussion. The determined values of most biochemical markers in patients with PKU were within the reference values. In some patients taking PAM-2, minor changes were observed, which were reflected in increased urea content and activity of aspartate aminotransferase, lactate dehydrogenase and alkaline phosphatase outside the upper limit of normal.

Conclusions. New therapeutic foods have more balanced nutritional composition, developed according to modern dietary recommendations, which is confirmed by stable biochemical parameters of the blood of patients with phenylketonuria.

Author Biographies

V. Tutuk, National University of Pharmacy of the Ministry of Health of Ukraine

PhD-student

A. Zagayko, National University of Pharmacy of the Ministry of Health of Ukraine

Doctor of Biological Sciences, vice-rector, professor of the department of Biological Chemistry

D. Lytkin, National University of Pharmacy of the Ministry of Health of Ukraine

assistant of the biological chemistry department, head& assistant of ESIAP

References

Shoraka, H. R., Haghdoost, A. A., Baneshi, M. R., Bagherinezhad, Z., Zolala, F. (2020). Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis. Clinical and experimental pediatrics, 63 (2), 34–43. doi: https://doi.org/10.3345/kjp.2019.00465.

Brosco, J. P., Paul, D. B. (2013). The political history of PKU: reflections on 50 years of newborn screening. Pediatrics, 132 (6), 987–989. doi: https://doi.org/10.1542/peds.2013-1441.

Williams, R. A., Mamotte, C. D., Burnett, J. R. (2008). Phenylketonuria: an inborn error of phenylalanine metabolism. The Clinical biochemist. Reviews, 29 (1), 31–41.

Hofman, D. L., Champ, C. L., Lawton, C. L., Henderson, M., Dye, L. (2018). A systematic review of cognitive functioning in early treated adults with phenylketonuria. Orphanet journal of rare diseases, 13 (1), 150. doi: https://doi.org/10.1186/s13023-018-0893-4.

Rocha, J. C., MacDonald, A. (2016). Dietary intervention in the management of phenylketonuria: current perspectives. Pediatric health, medicine and therapeutics, 7, 155–163. doi: https://doi.org/10.2147/PHMT.S49329.

van Wegberg, A., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., van Rijn, M., Trefz, F., Walter, J. H., van Spronsen, F. J. (2017). The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet journal of rare diseases, 12 (1), 162. doi: https://doi.org/10.1186/s13023-017-0685-2.

Al Hafid, N., Christodoulou, J. (2015). Phenylketonuria: a review of current and future treatments. Translational pediatrics, 4 (4), 304–317. doi: https://doi.org/10.3978/j.issn.2224-4336.2015.10.07.

Downloads

Published

2020-09-18

Issue

No. 3(64) (2020)

Section

Pharmacology and biochemistry

License

Copyright (c) 2020 National University of Pharmacy

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms:

  1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
  2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).