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The Importance, Contribution and Problems of Parents with Phenylketonuria (PKU) - An Association in İstanbul

Year 2017, Volume: 3 Issue: 1, 65 - 76, 30.06.2017

Abstract

Nutritional therapy and adaptation
to this treatment are essential in Phenylketonuria (PKU), a congenital
metabolic disease. This study was undertaken to determine the contribution of
families in coping with problems that make nutritional adaptation difficult.

Difficulties faced by families in
achieving low-protein, low-phenylalanine-containing products that are
inadequate and expensive to achieve proper nutrition in PKU disease,  the ways to cope with these difficulties, the
problems that can be or are experienced in harmony with the environment of the
patients, and the ways to cope with them consists the subject of the study.





As a result of the study it is
understood that it is necessary and important to educate the families, to
prevent the marriage of the relatives and to raise the awareness of the
community in order not to increase the prevalence of recessive diseases in
general frame. In the private area, the support of the family, the care to be
shown about the nutrition, the minimization of the negative effects of the
environment, the self-confidence to be given to the patient can create
cognitive health and a life without any problems. 

References

  • Amber, E. et al. (2010). High Phenylalanine Levels Directly Affect Mood and Sustained Attention in Adults with Phenylketonuria: A randomized, doube- blind, placebo- controlled, crossover trial.
  • Ana Çocuk Sağlığı Aile Planlaması Genel Müdürlüğü. (2016, Aralık 23). Neonatal Tarama Programı Genelgesi 2006/ 130. Retrieved from T.C. Sağlık Bakanlığı Web Sitesi: http://www.saglik.gov.tr/TR,11079/neonatal-tarama-programi-genelgesi-2006--130.html
  • Arslan, K. (2010). Batı Karadeniz Bölgesindeki Akraba Evliliklerinde Kronik Ve Genetik Hastalıklar Sıklığının Araştırılması. DÜZCE ÜNİVERSİTESİ Sağlık Bilimleri Enstitüsü Yüksek Lisans Tezi.
  • Bernstein, L., & ark. (2013). Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys . Journal of Human Nutrition and Dietetics.
  • Bik, M., & ark. (2009). Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. Journal of Inherited Metabolic Diseases.
  • Blau, N., & ark. (2010). Phenylketonuria.
  • Blau, N., J van Spronsen, F., & Lavy, H. (2010, October 23). Phenylketonuria. The Lancet, pp. 1417-1427.
  • Burgut, Ö. (2014). Disease Perception Among Mothers of Children with PKU.
  • Diesen, P., & Counsel, G. (2016). “I Feel Lucky”- Gratitude Among Young Adults with Phenylketonuria (PKU). Journal of Genetic Counseling.
  • Groselja, U., Tanseka, M., & Battelin, T. (2014). Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest? Molecular Genetics and Metabolism, 113-1/2.
  • Köksal, G., & Gökmen, H. (2015). Çocuk Hastalıklarında Beslenme Tedavisi, Fenilketonüri. Ankara: Hatiboğlu Yayınları. Retrieved Ekim Cuma, 2016
  • Neonatal Tarama Programı Genelgesi 2006 / 130. (2017, April 19). Retrieved from www.saglik.gov.tr: https://www.saglik.gov.tr/TR,11079/neonatal-tarama-programi-genelgesi-2006--130.html
  • Ozalp, I., & ark. (2001). Newborn PKU screening in Turkey: At present and organization for future.
  • Scriver, C. (1995). Whatever happened to PKU? Clinical Biochemistry.
  • Tabak, A. (2008). Endokrinoloji ve Metabolizma Polikliniğimizden Takipli Hastalarda Akraba Evliliği Sıklığı ve Akraba Evliliğini Etkileyen Faktörler.
  • Web- 1. (2016, Kasım 3). Retrieved from National PKU Alliance Web sitesi: npku.org/Education/About-PKU, About PKU.
  • Williams, R., Mamotte , C., & Burnett , J. (2008). Phenylketonuria: An Inborn Error of Phenylalanine Metabolism. Clinical Biochemistry Reviews, 29-1.
Year 2017, Volume: 3 Issue: 1, 65 - 76, 30.06.2017

Abstract

References

  • Amber, E. et al. (2010). High Phenylalanine Levels Directly Affect Mood and Sustained Attention in Adults with Phenylketonuria: A randomized, doube- blind, placebo- controlled, crossover trial.
  • Ana Çocuk Sağlığı Aile Planlaması Genel Müdürlüğü. (2016, Aralık 23). Neonatal Tarama Programı Genelgesi 2006/ 130. Retrieved from T.C. Sağlık Bakanlığı Web Sitesi: http://www.saglik.gov.tr/TR,11079/neonatal-tarama-programi-genelgesi-2006--130.html
  • Arslan, K. (2010). Batı Karadeniz Bölgesindeki Akraba Evliliklerinde Kronik Ve Genetik Hastalıklar Sıklığının Araştırılması. DÜZCE ÜNİVERSİTESİ Sağlık Bilimleri Enstitüsü Yüksek Lisans Tezi.
  • Bernstein, L., & ark. (2013). Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys . Journal of Human Nutrition and Dietetics.
  • Bik, M., & ark. (2009). Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. Journal of Inherited Metabolic Diseases.
  • Blau, N., & ark. (2010). Phenylketonuria.
  • Blau, N., J van Spronsen, F., & Lavy, H. (2010, October 23). Phenylketonuria. The Lancet, pp. 1417-1427.
  • Burgut, Ö. (2014). Disease Perception Among Mothers of Children with PKU.
  • Diesen, P., & Counsel, G. (2016). “I Feel Lucky”- Gratitude Among Young Adults with Phenylketonuria (PKU). Journal of Genetic Counseling.
  • Groselja, U., Tanseka, M., & Battelin, T. (2014). Fifty years of phenylketonuria newborn screening — A great success for many, but what about the rest? Molecular Genetics and Metabolism, 113-1/2.
  • Köksal, G., & Gökmen, H. (2015). Çocuk Hastalıklarında Beslenme Tedavisi, Fenilketonüri. Ankara: Hatiboğlu Yayınları. Retrieved Ekim Cuma, 2016
  • Neonatal Tarama Programı Genelgesi 2006 / 130. (2017, April 19). Retrieved from www.saglik.gov.tr: https://www.saglik.gov.tr/TR,11079/neonatal-tarama-programi-genelgesi-2006--130.html
  • Ozalp, I., & ark. (2001). Newborn PKU screening in Turkey: At present and organization for future.
  • Scriver, C. (1995). Whatever happened to PKU? Clinical Biochemistry.
  • Tabak, A. (2008). Endokrinoloji ve Metabolizma Polikliniğimizden Takipli Hastalarda Akraba Evliliği Sıklığı ve Akraba Evliliğini Etkileyen Faktörler.
  • Web- 1. (2016, Kasım 3). Retrieved from National PKU Alliance Web sitesi: npku.org/Education/About-PKU, About PKU.
  • Williams, R., Mamotte , C., & Burnett , J. (2008). Phenylketonuria: An Inborn Error of Phenylalanine Metabolism. Clinical Biochemistry Reviews, 29-1.
There are 17 citations in total.

Details

Journal Section Research
Authors

Arzu Durukan

Büşra Donat This is me

Publication Date June 30, 2017
Submission Date September 7, 2017
Acceptance Date June 29, 2017
Published in Issue Year 2017 Volume: 3 Issue: 1

Cite

APA Durukan, A., & Donat, B. (2017). The Importance, Contribution and Problems of Parents with Phenylketonuria (PKU) - An Association in İstanbul. Uluslararası Kültürel Ve Sosyal Araştırmalar Dergisi, 3(1), 65-76.

 International Journal of Cultural and Social Studies