Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness
- Autores: Gundorova P.1, Stepanova A.A.1, Bushueva T.V.2, Belyashova E.Y.3, Zinchenko R.A.1,4, Amelina S.S.5, Kutsev S.I.1,4, Polyakov A.V.1
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Afiliações:
- Research Centre for Medical Genetics
- Scientific Center of Children’s Health
- Medical and Genetic Counseling
- Pirogov Russian National Research Medical University
- Rostov State Medical University
- Edição: Volume 53, Nº 6 (2017)
- Páginas: 712-718
- Seção: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/188310
- DOI: https://doi.org/10.1134/S1022795417060060
- ID: 188310
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Resumo
To date, the efficacy of the phenylalanine hydroxylase (PAH) cofactor is proved for the treatment of both BH4-dependent hyperphenylalaninemia and phenylketonuria patients with mutations in the PAH gene. Since the patient’s response depends on the presence of residual PAH enzyme activity, it is advisable to search for mutations in the PAH gene to identify the potential responders and nonresponders to therapy. Four hundred thirty-five phenylketonuria patients from 13 regions of the Russian Federation were genotyped in order to identify responders and nonresponders to tetrahydrobiopterin (BH4) therapy. According to the results of this study, the number of probable nonresponders to the BH4 treatment exceeds 50% owing to a higher overall allelic frequency of “severe” PAH gene mutations. Responder patients with two “mild” mutations in the PAH gene were identified (1.6%).
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Sobre autores
P. Gundorova
Research Centre for Medical Genetics
Autor responsável pela correspondência
Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478
A. Stepanova
Research Centre for Medical Genetics
Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478
T. Bushueva
Scientific Center of Children’s Health
Email: p_gundorova@inbox.ru
Rússia, Moscow, 119296
E. Belyashova
Medical and Genetic Counseling
Email: p_gundorova@inbox.ru
Rússia, Orenburg, 460035
R. Zinchenko
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478; Moscow, 117997
S. Amelina
Rostov State Medical University
Email: p_gundorova@inbox.ru
Rússia, Rostov-on-Don, 344022
S. Kutsev
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478; Moscow, 117997
A. Polyakov
Research Centre for Medical Genetics
Email: p_gundorova@inbox.ru
Rússia, Moscow, 115478
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