A current view of the diagnostics and treatment of phenylketonuria in Slovakia

Open access

Abstract

An overview of the diagnostics and treatment of phenylketonuria in Slovakia is presented in this paper. The nature of diseases, incidence and prevalence in Slovakia, its genetic characteristics, current laboratory diagnostics and treatment options are defined. A new method of phenylketonuria screening in Slovakia, which has brought substantial improvement in early detection of the disease and shortening time for definitive diagnosis since 1995 as well as the importance of a tandem MS/MS (mass spectrometry) introduced in the diagnosis of inherited metabolic disorders, is presented. The current state of phenylketonuria treatment focusing on low-protein dietary treatment and supplementation of amino acid mixtures is analysed. The use of sapropterin, enzyme replacement therapy, large neutral amino acids supplementation and gene therapy are also discussed.

If the inline PDF is not rendering correctly, you can download the PDF file here.

  • [1] Strnová J.: Hyperphenylalaninaemiae v Buchanec J a kol.: Vademékum pediatra. Martin Osveta. 2001; 649-652.

  • [2] Hyánek J. et al.: Maternal hyperphenylalaninemia in a population of healthy Czech women. 18 years experience with mass screening diet therapy and metabolic monitoring. Čas. Lék. čes. 1996; 135 50: 87-90.

  • [3] Procházková D. Konečná P. Kozák L. Hrabincová E. Severová J. Vinohradská H. Hrstková H: Maternální fenylketonurie (PKU) v regionu Moravy. Čsl. Pediat. 60 2005; 5:251-256.

  • [4] Ürge O. Strnová J.: Vzdelanie a možnosti spoločenského uplatnenia pacientov s fenylketonúriou. Lekársky obzor 55 2006; 4:148-151.

  • [5] Strnová J. Ürge O. Nogeová A.: Je možná korelácia medzi fenotypom a genotypom u pacientov s fenylketonúriou. Čsl. Pediat. 62 2007; 5:345-346.

  • [6] Burton B.K. Grande D.K. Milanowski A.: The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (GR-tetrahydrobiopterin). J Inherit Metab Dis 30 2007; 700-707.

  • [7] Sarkisian C.N. Gamez A.: Phenylalanine ammonia lyase enzyme substitution therapy for phenylketonuria where are we now? Mol Genet Metab 86 2005; Suppl 1 s. 22-26.

  • [8] Singh R.H. Douglas T.D. Quirk M.E.: Current trials for alternative treatment of phenylketonuria. Symposium Advances and Chalenges in PKU Abstrakt Lisabon Portugal March 2011.

  • [9] Skríning novorodencov SR správa skríningového centra SR za rok 2010.

  • [10] Dluholucký S. and Knapková M.: Newborn Screening in Slovakia – From 1985 Till Today Acta Fac Pharm Univ Comen 2013; LX SuppVIII: 32–36.

  • [11] Dluholucký S. Knapková M. Záhorcová M.: First Results From Expanded Newborn Screening in the Slovak Republic Acta Fac. Pharm. Univ. Comen. LXI 2014 (1):17–20.

  • [12] Ürge O. Strnová J.: Nové prístupy v liečbe fenylketonúrie na Slovensku. Det Lekár 16 2009; 1: 5-7.

  • [13] Professional Guidance of the Ministry of health of the Slovak republic 42/2012 about screening (in Slovak) Available at: http://www.health.gov.sk/Zdroje?/Sources/dokumenty/vestniky_mz_sr/2012/vestnik-39-60-2012.pdf Accessed at 1.3.2014.

Search
Journal information
Impact Factor


CiteScore 2018: 0.39

SCImago Journal Rank (SJR) 2018: 0.128
Source Normalized Impact per Paper (SNIP) 2018: 0.337

Metrics
All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 294 178 1
PDF Downloads 132 89 1