A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment.

Background Phenylketonuria (PKU), a rare, inherited metabolic condition, is treated with a strict low-phenylalanine (Phe) diet, supplemented with Phe-free protein substitute. The optimal nutritional management of a sporting individual with PKU has not been described. Therefore, guidelines for the general athlete have to be adapted. Case presentation Three clinical scenarios of sporting patients with PKU are given, illustrating dietary adaptations to usual management and challenges to attain optimal sporting performance. Therefore, the main objectives of sports nutrition in PKU are to (1) maintain a high carbohydrate diet; (2) carefully monitor hydration status; and (3) give attention to the timing of protein substitute intake in the immediate post-exercise recovery phase. Optimal energy intake should be given prior to, during and post exercise training sessions or competition. Fortunately, a usual low-Phe diet is rich in carbohydrate, but attention is required on the types of special low-protein foods chosen. Acute exercise does not seem to influence blood Phe concentrations, but further evidence is needed. Summary Well-treated PKU patients should be able to participate in sports activities, but this is associated with increased nutritional requirements and dietary adjustments. Conclusions It should be the goal of all sporting patients with PKU to maintain good metabolic Phe control and attain maximal athletic performance.

Hepatic Glycogen Storage Diseases Toward One Global Collaborative Network

Abstract The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This report highlights dilemmas in dietary management, differences in monitoring strategies, and challenges with rare disease care, research, and patient participation.

Weight Management in Phenylketonuria: What Should Be Monitored.

BACKGROUND: Severe intellectual disability and growth impairment have been overcome by the success of early and continuous treatment of patients with phenylketonuria (PKU). However, there are some reports of obesity, particularly in women, suggesting that this may be an important comorbidity in PKU. It is becoming evident that in addition to acceptable blood phenylalanine control, metabolic dieticians should regard weight management as part of routine clinical practice. SUMMARY: It is important for practitioners to differentiate the 3 levels for overweight interpretation: anthropometry, body composition and frequency and severity of associated metabolic comorbidities. The main objectives of this review are to suggest proposals for the minimal standard and gold standard for the assessment of weight management in PKU. While the former aims to underline the importance of nutritional status evaluation in every specialized clinic, the second objective is important in establishing an understanding of the breadth of overweight and obesity in PKU in Europe. KEY MESSAGES: In PKU, the importance of adopting a European nutritional management strategy on weight management is highlighted in order to optimize long-term health outcomes in patients with PKU.