Search results

Search:
in the keywords: hyperphenylalaninemia

Sort By:

Limit search:

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.

100%

Żekanowski C., Perez B., Desviat L. R., Wiszniewski W., Ugarte M.

Acta Biochimica Polonica

2000

vol. 47

issue 2

365-369

Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

88%

Bik-Multanowski M., Kaluzny L., Mozrzymas R., Oltarzewski M., Starostecka E., Lange A., Didycz B., Gizewska M., Ulewicz-Filipowicz J., Chrobot A., Mikoluc B., Szymczakiewicz-Multanowska A., Cichy W., Pietrzyk J.

Acta Biochimica Polonica

2013

vol. 60

issue 4

613-616

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.

Refine search results

2 Acta Biochimica Polonica

1 2013

1 2000

1 Bik-Multanowski M.

1 Chrobot A.

1 Cichy W.

1 Desviat L. R.

1 Didycz B.

1 Gizewska M.

1 Kaluzny L.

1 Lange A.

1 Mikoluc B.

1 Mozrzymas R.

1 Oltarzewski M.

1 Perez B.

1 Pietrzyk J.

1 Starostecka E.

1 Szymczakiewicz-Multanowska A.

1 Ugarte M.

1 Ulewicz-Filipowicz J.

1 Wiszniewski W.

1 Żekanowski C.

Search results

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness