TY - JOUR TT - The Importance, Contribution and Problems of Parents with Phenylketonuria (PKU) - An Association in İstanbul AU - Durukan, Arzu AU - Donat, Büşra PY - 2017 DA - June Y2 - 2017 JF - International Journal of Cultural and Social Studies (IntJCSS) JO - IntJCSS PB - Mutlu TÜRKMEN WT - DergiPark SN - 2458-9381 SP - 65 EP - 76 VL - 3 IS - 1 KW - Phenylketonuria KW - PKU KW - rare disorder KW - family KW - nutrition N2 - Nutritional therapy and adaptationto this treatment are essential in Phenylketonuria (PKU), a congenitalmetabolic disease. This study was undertaken to determine the contribution offamilies in coping with problems that make nutritional adaptation difficult.Difficulties faced by families inachieving low-protein, low-phenylalanine-containing products that areinadequate and expensive to achieve proper nutrition in PKU disease,  the ways to cope with these difficulties, theproblems that can be or are experienced in harmony with the environment of thepatients, and the ways to cope with them consists the subject of the study. As a result of the study it isunderstood that it is necessary and important to educate the families, toprevent the marriage of the relatives and to raise the awareness of thecommunity in order not to increase the prevalence of recessive diseases ingeneral frame. In the private area, the support of the family, the care to beshown about the nutrition, the minimization of the negative effects of theenvironment, the self-confidence to be given to the patient can createcognitive health and a life without any problems.  CR - 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. CR - 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 CR - Arslan, K. (2010). Batı Karadeniz Bölgesindeki Akraba Evliliklerinde Kronik Ve Genetik Hastalıklar Sıklığının Araştırılması. DÜZCE ÜNİVERSİTESİ Sağlık Bilimleri Enstitüsü Yüksek Lisans Tezi. CR - 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. CR - Bik, M., & ark. (2009). Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. Journal of Inherited Metabolic Diseases. CR - Blau, N., & ark. (2010). Phenylketonuria. CR - Blau, N., J van Spronsen, F., & Lavy, H. (2010, October 23). Phenylketonuria. The Lancet, pp. 1417-1427. CR - Burgut, Ö. (2014). Disease Perception Among Mothers of Children with PKU. CR - Diesen, P., & Counsel, G. (2016). “I Feel Lucky”- Gratitude Among Young Adults with Phenylketonuria (PKU). Journal of Genetic Counseling. CR - 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. CR - Köksal, G., & Gökmen, H. (2015). Çocuk Hastalıklarında Beslenme Tedavisi, Fenilketonüri. Ankara: Hatiboğlu Yayınları. Retrieved Ekim Cuma, 2016 CR - 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 CR - Ozalp, I., & ark. (2001). Newborn PKU screening in Turkey: At present and organization for future. CR - Scriver, C. (1995). Whatever happened to PKU? Clinical Biochemistry. CR - Tabak, A. (2008). Endokrinoloji ve Metabolizma Polikliniğimizden Takipli Hastalarda Akraba Evliliği Sıklığı ve Akraba Evliliğini Etkileyen Faktörler. CR - Web- 1. (2016, Kasım 3). Retrieved from National PKU Alliance Web sitesi: npku.org/Education/About-PKU, About PKU. CR - Williams, R., Mamotte , C., & Burnett , J. (2008). Phenylketonuria: An Inborn Error of Phenylalanine Metabolism. Clinical Biochemistry Reviews, 29-1. UR - https://dergipark.org.tr/en/pub/intjcss/issue//337124 L1 - https://dergipark.org.tr/en/download/article-file/339482 ER -