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

Arzu Durukan , Büşra Donat

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. 

Keywords

Phenylketonuria, PKU, rare disorder, family, nutrition

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