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Fenilketonüri: Olgu Sunumu

Year 2016, Volume: 2 Issue: 2, 57 - 62, 10.10.2016

Abstract

Fenilketonüri (FKU), fenilalanin hidroksilaz enziminin eksikliği ile

görülen otozomal resesif geçişli yenidoğan metabolizma hastalğdr.

Hastalk, geç fark edildiği ya da tedavisi yaplmadğ zaman hastay mental

retardasyona kadar götüren bir seyire sahiptir. Fenilketonürinin kesin

tedavisi yoktur. Hastalara hayat boyu tedavi verilir: bu tedaviler, BH4

tedavisi(eğer yantl ise) ve ya fenilalaninden kstl diyet tedavisidir. Bu

makalede İstanbul Cerrahpaşa Tp Fakültesi Çocuk Hastalklar

Metabolizma Bölümü’ne getirilen yenidoğan taramasnda fenilalanin

yüksekliği tespit edilen 16 günlük kz bebeğe uygulanan tedavi protokolü

anlatlmştr.

References

  • [1] Zurfluh, M. R., Zschocke, J., Lindner, M., Feillet, F., Chery, C., Burlina, A., Stevens, R. C., Thony, B., Blau, N. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum. Mutat. 29: 167-175, 2008. Note: Erratum: Hum. Mutat. 29: 1079 only, 2008. [2] Aktuğlu Zeybek, Ç. Fenilketonüri tarama program. Sağlam Çocuk İzlemi Sempozyum Dizisi 2003 Ekim: (35); 65-71 [3] Brown, Christine S., and Uta Lichter-Konecki. "Phenylketonuria (PKU): A problem solved?." Molecular genetics and metabolism reports 6 (2016): 8-12. [4] Cleary, Maureen Anne. "Phenylketonuria." Paediatrics and Child Health 25.3 (2015): 108-112. [5] Aguado, C., Pérez, B., García, M. J., Bélanger-Quintana, A., Martínez-Pardo, M., Ugarte, M., & Desviat, L. R. (2007). BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor. Clinica chimica acta, 380(1), 8- 12. [6] Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol Genet Metab. 2010 Jul. 100(3):229-33. [7] Anjema, K., van Rijn, M., Hofstede, F.C. et al. Orphanet J Rare Dis (2013) 8: 103. doi:10.1186/1750-1172-8-103) [8] Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA. The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis. 2007 Feb. 30(1):29-34. [9] Brumm VL, Bilder D, Waisbren SE.. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab 2010;99:S59- S63. [10] Simon E, Schwarz M, Roos J, et al. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes2008;6:25.
Year 2016, Volume: 2 Issue: 2, 57 - 62, 10.10.2016

Abstract

References

  • [1] Zurfluh, M. R., Zschocke, J., Lindner, M., Feillet, F., Chery, C., Burlina, A., Stevens, R. C., Thony, B., Blau, N. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum. Mutat. 29: 167-175, 2008. Note: Erratum: Hum. Mutat. 29: 1079 only, 2008. [2] Aktuğlu Zeybek, Ç. Fenilketonüri tarama program. Sağlam Çocuk İzlemi Sempozyum Dizisi 2003 Ekim: (35); 65-71 [3] Brown, Christine S., and Uta Lichter-Konecki. "Phenylketonuria (PKU): A problem solved?." Molecular genetics and metabolism reports 6 (2016): 8-12. [4] Cleary, Maureen Anne. "Phenylketonuria." Paediatrics and Child Health 25.3 (2015): 108-112. [5] Aguado, C., Pérez, B., García, M. J., Bélanger-Quintana, A., Martínez-Pardo, M., Ugarte, M., & Desviat, L. R. (2007). BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor. Clinica chimica acta, 380(1), 8- 12. [6] Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol Genet Metab. 2010 Jul. 100(3):229-33. [7] Anjema, K., van Rijn, M., Hofstede, F.C. et al. Orphanet J Rare Dis (2013) 8: 103. doi:10.1186/1750-1172-8-103) [8] Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA. The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis. 2007 Feb. 30(1):29-34. [9] Brumm VL, Bilder D, Waisbren SE.. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab 2010;99:S59- S63. [10] Simon E, Schwarz M, Roos J, et al. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes2008;6:25.
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Details

Primary Language Turkish
Journal Section Articles
Authors

Merve Pehlivan This is me

İndrani Kalkan

Publication Date October 10, 2016
Submission Date July 22, 2016
Published in Issue Year 2016 Volume: 2 Issue: 2

Cite

APA Pehlivan, M., & Kalkan, İ. (2016). Fenilketonüri: Olgu Sunumu. Aydın Sağlık Dergisi, 2(2), 57-62.

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