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

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

V. Tutuk, A. Zagayko, D. Lytkin

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.

Keywords


phenylketonuria; medical food products; orphan patients; amino acids

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.


GOST Style Citations


1. Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis / H. R. Shoraka et al. Clinical and experimental pediatrics. 2020. № 63 (2). Р. 34–43. DOI: https://doi.org/10.3345/kjp.2019.00465 (Date of access: 20.07.2020).

 

2. Brosco J. P., Paul D. B. The political history of PKU: reflections on 50 years of newborn screening. Pediatrics. 2013. № 132 (6). Р. 987–989. DOI: https://doi.org/10.1542/peds.2013-1441 (Date of access: 20.07.2020).

 

3. Williams R. A., Mamotte C. D., Burnett J. R. Phenylketonuria: an inborn error of phenylalanine metabolism. The Clinical biochemist. Reviews. 2008. № 29 (1). Р. 31–41.

 

4. A systematic review of cognitive functioning in early treated adults with phenylketonuria / D. L. Hofman et al. Orphanet Journal of Rare Diseases. 2018. № 13 (1). Р. 150.

 

5. Rocha J. C., MacDonald A. Dietary intervention in the management of phenylketonuria: current perspectives. Pediatric health, medicine and therapeutics. 2016. № 7. P. 155–163. DOI: https://doi.org/10.2147/PHMT.S49329 (Date of access: 20.07.2020).

 

6. The complete European guidelines on phenylketonuria: diagnosis and treatment / A. van Wegberg et al. Orphanet journal of rare diseases. 2017. № 12 (1). P. 162. DOI: https://doi.org/10.1186/s13023-017-0685-2 (Date of access: 20.07.2020).

 

7. Al Hafid N., Christodoulou J. Phenylketonuria: a review of current and future treatments. Translational pediatrics. 2015. № 4 (4). P. 304–317. DOI: https://doi.org/10.3978/j.issn.2224-4336.2015.10.07 (Date of access: 20.07.2020).





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Abbreviated key title: Ukr. biopharm. j.

ISSN 2519-8750 (Online), ISSN 2311-715X (Print)