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

• Authors: Miroslaw Bik-Multanowski , Lukasz Kaluzny , Renata Mozrzymas , Mariusz Oltarzewski , Ewa Starostecka , Agata Lange , Bozena Didycz , Maria Gizewska , Jolanta Ulewicz-Filipowicz , Agnieszka Chrobot , Bozena Mikoluc , Agnieszka Szymczakiewicz-Multanowska , Wojciech Cichy , Jacek Pietrzyk
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

PKU; hyperphenylalaninemia; inborn error of metabolism; dietary treatment; genetic epidemiology

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2013
• Volume: 60
• Issue: 4
• Pages: 613-616

Dates

published

2013

received

2013-06-27

revised

2013-10-14

accepted

2013-12-03

(unknown)

2013-12-17

Contributors

author

Miroslaw Bik-Multanowski

• Chair of Pediatrics, Jagiellonian University, Krakow, Poland

author

Lukasz Kaluzny

• Department of Pediatric Gastroenterology and Metabolism, Medical University, Poznan, Poland

author

Renata Mozrzymas

• Voivodeship Hospital, Wroclaw, Poland

author

Mariusz Oltarzewski

• Institute of Mother and Child, Warszawa, Poland

author

Ewa Starostecka

• Department of Endocrinology and Metabolic Diseases, Polish Mother's Health Memorial Institute, Lodz, Poland

author

Agata Lange

• Department of Endocrinology and Metabolic Diseases, Polish Mother's Health Memorial Institute, Lodz, Poland

author

Bozena Didycz

• Chair of Pediatrics, Jagiellonian University, Krakow, Poland

author

Maria Gizewska

• Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland

author

Jolanta Ulewicz-Filipowicz

• Department of Pediatrics, Oncology and Endocrinology, Medical University, Gdansk

author

Agnieszka Chrobot

• Voivodeship Hospital, Bydgoszcz, Poland

author

Bozena Mikoluc

• Department of Pediatrics and Developmental Disorders in Children and Adolescents, Medical University in Bialystok, Poland

author

Agnieszka Szymczakiewicz-Multanowska

• PRA International, Warsaw, Poland

author

Wojciech Cichy

• Department of Pediatric Gastroenterology and Metabolism, Medical University, Poznan, Poland

author

Jacek Pietrzyk

• Chair of Pediatrics, Jagiellonian University, Krakow, Poland

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