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Enzyme replacement therapy in patients with сlassic phenylketonuria according to data from clinical register of PKU
https://doi.org/10.25557/2073-7998.2025.04.82-89
Abstract
Most patients with Classical Phenylketonuria older than 16 years old, havehigh levels of serum phenylalanine. It is related to the difficulty in following to a low-phenylalanine diet. In these cases, it is leading to the development of complications. According to literary sources, the prevalence of intellectual disability, anxiety disorders, and depression in patients over 16 years old with Phenylketonuria is higher than in the general population. In this way, the appointment of enzyme replacement therapy is an optimal solution for the treatment in this group of patients. The analysis of the results of the use of enzyme replacement therapy in patients of the Russian Federation with an established diagnosis of classical phenylketonuria according to the clinical register of phenylketonuria/hyperphenylalaninemia (PKU/HFA) is presented in the article.
About the Authors
E. A. Shestopalova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow, 115522
R. A. Zinchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow, 115522
T. V. Bushueva
Research Centre for Medical Genetics;
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow, 115522,
2 building 1, Lomonosovsky Ave, Moscow,119269
I. A. Kuzmicheva
Clinical Hospital of Kaluga Region
Russian Federation
Russian Federation
1, Vishnevsky st, Kaluga, 248007
L. N. Kolbasin
Surgut District Clinical Center of Maternity and Childhood health care
Russian Federation
Russian Federation
15, Proletarsky Ave, Surgut City, 628405
S. I. Kutsev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st, Moscow, 115522
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Review
For citations:
Shestopalova E.A., Zinchenko R.A., Bushueva T.V., Kuzmicheva I.A., Kolbasin L.N., Kutsev S.I. Enzyme replacement therapy in patients with сlassic phenylketonuria according to data from clinical register of PKU. Medical Genetics. 2025;24(4):82-89. (In Russ.) https://doi.org/10.25557/2073-7998.2025.04.82-89
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