- Tytuł:
- Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
- Autorzy:
-
Bik-Multanowski, Miroslaw
Kaluzny, Lukasz
Mozrzymas, Renata
Oltarzewski, Mariusz
Starostecka, Ewa
Lange, Agata
Didycz, Bozena
Gizewska, Maria
Ulewicz-Filipowicz, Jolanta
Chrobot, Agnieszka
Mikoluc, Bozena
Szymczakiewicz-Multanowska, Agnieszka
Cichy, Wojciech
Pietrzyk, Jacek - Powiązania:
- https://bibliotekanauki.pl/articles/1039453.pdf
- Data publikacji:
- 2013
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
PKU
hyperphenylalaninemia
inborn error of metabolism
dietary treatment
genetic epidemiology - Opis:
- Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide genotyping study was carried out in 1286 Polish phenyloketonuria-patients. The aim was to estimate the BH4 demand and to cover prospectively the treatment by a National Health Fund. A total of 95 types of mutations were identified. Genetic variants corresponding with probable BH4-responsiveness were found in 28.2% of cases. However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11.4% of the studied population only. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe. Therefore, it can be concluded, that the proportion of phenylketonuria-patients who could benefit from the use of BH4 reaches approximately 10% in the entire region.
- Źródło:
-
Acta Biochimica Polonica; 2013, 60, 4; 613-616
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł