A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment
-
Júlio César Rocha
,
Esther van Dam
Abstract
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.
Acknowledgments
This article was supported by ERDF through the operation POCI-01-0145-FEDER-007746 funded by the Programa Operacional Competitividade e Internacionalização – COMPETE2020 and by National Funds through FCT – Fundação para a Ciência e a Tecnologia within CINTESIS, R&D Unit (reference UID/IC/4255/2013).
Authors contributions: All authors of this manuscript have directly participated in the planning, execution and analysis of this study. All authors have read and approved the final version submitted. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: All authors, except Manuela Ferreira Almeida and Emma Harbage, have received compensation from Biomarin as members of the European Nutritionist Expert Panel in PKU. Júlio César Rocha is member of an Advisory Board for Applied Pharma Research sa and Nutricia. He has received speaker fees from Merck Serono, Biomarin, Nutricia, Vitaflo and Cambrooke. Katharina Dokoupil is member of an Advisory Board (Nestlé). She has received honoraria and symposia travel allowances from Nutricia and Vitaflo. Anita MacDonald has received research funding and honoraria from Nutricia, Vitaflo International and Merck Serono. She is a member of the European Nutritionist Expert Panel (Biomarin), member of Sapropterin Advisory Board (Biomarin), member of the Advisory Board entitled ELEMENT (Danone-Nutricia), and member of an Advisory Board for Arla and Applied Pharma Research. Manuela Ferreira Almeida received grants from Glutamine, Nutricia, Merck Serono, Biomarin, Orphan and Lifediet to attend scientific meetings.
Ethics: Written informed consent was obtained from the patients involved in the presented clinical case scenarios.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review
- PCOS diagnosis in adolescents: the timeline of a controversy in a systematic review
- Original Articles
- Association between mild hyperthyrotropinemia and hypercholesterolemia in children with severe obesity
- Self-rated Tanner stage and subjective measures of puberty are associated with longitudinal gonadal hormone changes
- Early puberty in end stage renal failure and renal transplant recipients
- Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997–2017
- Evolution of circulating thyroid hormone levels in preterm infants during the first week of life: perinatal influences and impact on neurodevelopment
- Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes
- Etiology of primary adrenal insufficiency in children: a 29-year single-center experience
- The European Phenylketonuria Guidelines and the challenges on management practices in Portugal
- Case Reports
- Transient neonatal hypothyroidism following a short course of maternal amiodarone therapy
- A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment
- Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity
- Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
Articles in the same Issue
- Frontmatter
- Review
- PCOS diagnosis in adolescents: the timeline of a controversy in a systematic review
- Original Articles
- Association between mild hyperthyrotropinemia and hypercholesterolemia in children with severe obesity
- Self-rated Tanner stage and subjective measures of puberty are associated with longitudinal gonadal hormone changes
- Early puberty in end stage renal failure and renal transplant recipients
- Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997–2017
- Evolution of circulating thyroid hormone levels in preterm infants during the first week of life: perinatal influences and impact on neurodevelopment
- Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes
- Etiology of primary adrenal insufficiency in children: a 29-year single-center experience
- The European Phenylketonuria Guidelines and the challenges on management practices in Portugal
- Case Reports
- Transient neonatal hypothyroidism following a short course of maternal amiodarone therapy
- A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment
- Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity
- Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
