1
İstanbul Okan University, Nutrition and Dietetics
2
İstanbul Okan University, Nutrition and Dietetics
Abstract
Phenylketonuria (PKU) is a congenital metabolic disorder caused by a deficiency of phenylalanine hydroxylase. Left untreated, it can lead to severe neurological damage. Early diagnosis is possible thanks to newborn screening programs, and effective treatment includes a low-protein diet, medical nutritional supplements and regular monitoring of phenylalanine (Phe) levels in the blood. The prevalence of PKU in Turkey is high, occurring in every 3,500-4,000 live births. Compliance with the diet may be difficult due to various individual and environmental factors. Social pressures, busy daily life, problems in accessing high-cost special diet products and lack of information about phenylalanine content are the main barriers that negatively affect adherence. In addition, the stress of dietary control of the disease and the feeling of stuck eating lead to impaired eating behaviors and increased risk of eating disorders. This relationship is supported by the observation that eating disorders are more common in individuals with low metabolic control. Although this relationship is accepted in the European PKU guidelines, more research is needed due to the lack of literature. Supporting dietary compliance and directing individuals with impaired eating behavior to healthy eating habits are of great importance in terms of treatment efficacy and quality of life. Therefore, multidisciplinary and comprehensive support mechanisms should be developed.
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Aylin Seylam Küşümler
2