Investigation of Eating Behaviors and Dietary Compliance of Adult Individuals with Phenylketonuria
DOI:
https://doi.org/10.5281/zenodo.15767324Keywords:
Phenylketonuria , Dietary Adherence , Eating BehaviorAbstract
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.
References
Van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., ... & Van Spronsen, F. J. (2017). The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet Journal of Rare Diseases, 12, 1-56. [CrossRef] [PubMed]
MacDonald, A., Van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., ... & Van Spronsen, F. J. (2020). PKU dietary handbook to accompany PKU guidelines. Orphanet Journal of Rare Diseases, 15, 1-21. [CrossRef] [PubMed]
Blau, N., van Spronsen, F. J., & Levy, H. L. (2010). Phenylketonuria. The Lancet, 376(9750), 1417–1427. [CrossRef] [PubMed]
Luu, S., Breunig, T., Drilias, N., Kuhl, A., Schwoerer, S., & Cody, P. (2020). A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency. WMJ: Official Publication of the State Medical Society of Wisconsin, 119(1), 37-43. [PubMed]
Antisdel, J. E., & Chrisler, J. C. (2000). Comparison of eating attitudes and behaviors among adolescent and young women with type 1 diabetes mellitus and phenylketonuria. Journal of Developmental and Behavioral Pediatrics : JDBP, 21(2), 81–86. [CrossRef] [PubMed]
Wiedemann, A., Oussalah, A., Jeannesson, É., Guéant, J. L., & Feillet, F. (2020). La phénylcétonurie - De la diététique à la thérapie génique [Phenylketonuria, from diet to gene therapy]. Medecine Sciences : M/S, 36(8-9), 725–734. [CrossRef]
Walter, J. H., White, F. J., Hall, S. K., MacDonald, A., Rylance, G., Boneh, A., ... & Vail, A. (2002). How practical are recommendations for dietary control in phenylketonuria?. The Lancet, 360(9326), 55-57. [CrossRef] [PubMed]
Burlina, A., Biasucci, G., Carbone, M. T., Cazzorla, C., Paci, S., Pochiero, F., ... & Leuzzi, V. (2021). Italian national consensus statement on management and pharmacological treatment of phenylketonuria. Orphanet Journal of Rare Diseases, 16, 1-18. [CrossRef] [PubMed]
Christ S. E. (2003). Asbjørn Følling and the discovery of phenylketonuria. Journal of the History of the Neurosciences, 12(1), 44–54. [CrossRef] [PubMed]
Woolf, L. I., Griffiths, R., & Moncrieff, A. (1955). Treatment of phenylketonuria with a diet low in phenylalanine. British Medical Journal, 1(4905), 57. [CrossRef] [PubMed]
Woolf, L. I., & Adams, J. (2020). The early history of PKU. International Journal of Neonatal Screening, 6(3), 59. [CrossRef] [PubMed]
Woolf, L. I., Griffiths, R., Moncrieff, A., Coates, S., & Dillistone, F. (1958). The dietary treatment of phenylketonuria. Archives of Disease in Childhood, 33(167), 31. [CrossRef] [PubMed]
Alonso-Fernández, J. R. (2020). Dr. Louis Isaac Woolf: At the Forefront of Newborn Screening and the Diet to Treat Phenylketonuria—Biography to Mark His 100th Birthday. International Journal of Neonatal Screening, 6(3), 61. [CrossRef] [PubMed]
Guthrie, R., & Susi, A. (1963). A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics, 32(3), 338-343. [PubMed]
Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., ... & Blau, N. (2020). The genetic landscape and epidemiology of phenylketonuria. The American Journal of Human Genetics, 107(2), 234-250. [CrossRef] [PubMed]
Okano, Y., Kudo, S., Nishi, Y., Sakaguchi, T., & Aso, K. (2011). Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. Journal of Human Genetics, 56(4), 306-312. [CrossRef] [PubMed]
Türkiye Halk Sağlığı ve Kronik Hastalıklar Enstitüsü. (2019, 13 Eylül). Nadir hastalıklar raporu. Türkiye Sağlık Enstitüleri Başkanlığı (TÜSEB). https://www.tuseb.gov.tr/uploads/nadir_hastaliklar_raporu.pdf
Toktaş, İ., Sarıbaş, S., Canpolat, S., Erdem, Ö., & Özbek, M. N. (2022). Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: A ten-year retrospective study. The Turkish Journal of Pediatrics, 64(6), 985–992. [CrossRef] [PubMed]
Güttler, F. (1980). Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta paediatrica Scandinavica. Supplement, 280, 1-80. [PubMed]
Lindner, M. (2006). Treatment of phenylketonuria variants: European recommendations. PKU and BH4: advances in phenylketonuria and tetrahydrobiopterin. Heilbronn: SPS Verlagsgesellschaft mbH, 18087.
El-Hattab, A. W., Almannai, M., & Sutton, V. R. (2018). Newborn screening: history, current status, and future directions. Pediatric Clinics, 65(2), 389-405. [CrossRef] [PubMed]
Rajabi, F. (2018). Updates in newborn screening. Pediatric Annals, 47(5), e187-e190. [CrossRef] [PubMed]
Centerwall, S. A., & Centerwall, W. R. (2000). The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist. Pediatrics, 105(1), 89-103. [CrossRef] [PubMed]
Ozalp, I., Coşkun, T., Tokatli, A. Y. Ş. E. G. Ü. L., Kalkanoğlu, H. S., Dursun, A., Tokol, S., & Köse, R. (2001). Newborn PKU screening in Turkey: at present and organization for future. The Turkish Journal of Pediatrics, 43(2), 97-101. [PubMed]
Tezel, B., Dilli, D., Bolat, H., Sahman, H., Ozbaş, S., Acıcan, D., Ertek, M., Köse, M. R., & Dilmen, U. (2014). The development and organization of newborn screening programs in Turkey. Journal of Clinical Laboratory Analysis, 28(1), 63–69. [CrossRef] [PubMed]
Republic of Turkey Ministry of Health, General Directorate of Public Health. (n.d.). Newborn metabolic and endocrine diseases screening program. https://hsgm.saglik.gov.tr/tr/tarama-programlari/ntp.html
Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., ... & Berry, S. A. (2014). Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genetics in Medicine, 16(2), 188-200. [CrossRef] [PubMed]
Van Spronsen, F. J., van Wegberg, A. M., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., ... & MacDonald, A. (2017). Key European guidelines for the diagnosis and management of patients with phenylketonuria. The Lancet Diabetes & Endocrinology, 5(9), 743-756. [CrossRef] [PubMed]
Smith, W. E., Berry, S. A., Bloom, K., Brown, C., Burton, B. K., Demarest, O. M., & ACMG Board of Directors. (2025). Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 27(1), 101289. [CrossRef] [PubMed]
van Spronsen, F. J., Blau, N., Harding, C., Burlina, A., Longo, N., & Bosch, A. M. (2021). Phenylketonuria. Nature Reviews Disease Primers, 7(1), 36. [CrossRef] [PubMed]
Weglage, J., Fünders, B., Ullrich, K., Rupp, A., & Schmidt, E. (1996). Psychosocial aspects in phenylketonuria. European Journal of Pediatrics, 155 Suppl 1, S101–S104. [CrossRef] [PubMed]
Tandoğan, Z., & Bilgin, M. G. (2021). Evaluation of Nutritional Habits and Food Consumption Levels of Patients with Phenylketonuria. Journal of Child, 22(3), 191-199. [CrossRef]
MaCdonald, A., van Rijn, M., Feillet, F., Lund, A. M., Bernstein, L., Bosch, A. M., Gizewska, M., & van Spronsen, F. J. (2012). Adherence issues in inherited metabolic disorders treated by low natural protein diets. Annals of Nutrition & Metabolism, 61(4), 289–295. [CrossRef] [PubMed]
Poole, G., Pinto, A., Evans, S., Ford, S., O’Driscoll, M., Buckley, S., ... & MacDonald, A. (2022). Hungry for change: the experiences of people with PKU, and their caregivers, when eating out. Nutrients, 14(3), 626. [CrossRef] [PubMed]
Cazzorla, C., Bensi, G., Biasucci, G., Leuzzi, V., Manti, F., Musumeci, A., ... & Burlina, A. (2018). Living with phenylketonuria in adulthood: The PKU ATTITUDE study. Molecular Genetics and Metabolism Reports, 16, 39-45. [CrossRef] [PubMed]
Green, B., Browne, R., Firman, S., Hill, M., Rahman, Y., Kaalund Hansen, K., ... & Stratton, R. (2019). Nutritional and metabolic characteristics of UK adult phenylketonuria patients with varying dietary adherence. Nutrients, 11(10), 2459. [CrossRef] [PubMed]
Romero-Gómez, M., Zelber-Sagi, S., & Trenell, M. (2017). Treatment of NAFLD with diet, physical activity and exercise. Journal of Hepatology, 67(4), 829–846. [CrossRef] [PubMed]
Pinto, A., Ahring, K., Almeida, M. F., Ashmore, C., Bélanger-Quintana, A., Burlina, A., ... & MacDonald, A. (2024). Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?. Nutrients, 16(13), 2064. [CrossRef] [PubMed]
Rocha, J. C., Ahring, K. K., Bausell, H., Bilder, D. A., Harding, C. O., Inwood, A., Longo, N., Muntau, A. C., Pessoa, A. L. S., Rohr, F., Sivri, S., & Hermida, Á. (2023). Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria. Nutrients, 15(18), 3940. [CrossRef] [PubMed]
Anton-Păduraru, D. T., Trofin, F., Chis, A., Sur, L. M., Streangă, V., Mîndru, D. E., ... & Vulturar, R. (2025). Current Insights into Nutritional Management of Phenylketonuria: An Update for Children and Adolescents. Children, 12(2), 199. [CrossRef] [PubMed]
Burton, B. K., & Leviton, L. (2010). Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). Molecular Genetics and Metabolism, 101(2-3), 146-148. [CrossRef] [PubMed]
Reach G. (2025). Phenylketonuria as an Adherence Disease. Patient Preference and Adherence, 19, 1059–1073. [CrossRef] [PubMed]
Polivy, J., & Herman, C. P. (2002). Causes of eating disorders. Annual Review of Psychology, 53(1), 187-213. [CrossRef] [PubMed]
Robertson, L., Adam, S., Ellerton, C., Ford, S., Hill, M., Randles, G., ... & MacDonald, A. (2022). Dietetic management of adults with phenylketonuria (PKU) in the UK: a care consensus document. Nutrients, 14(3), 576. [CrossRef] [PubMed]
Bilder, D. A., Kobori, J. A., Cohen-Pfeffer, J. L., Johnson, E. M., Jurecki, E. R., & Grant, M. L. (2017). Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study. Molecular Genetics and Metabolism, 121(1), 1–8. [CrossRef] [PubMed]
Tankeu, A. T., Pavlidou, D. C., Superti-Furga, A., Gariani, K., & Tran, C. (2023). Overweight and obesity in adult patients with phenylketonuria: a systematic review. Orphanet Journal of Rare Diseases, 18(1), 37. [CrossRef] [PubMed]
Burton, B. K., Hermida, Á., Bélanger-Quintana, A., Bell, H., Bjoraker, K. J., Christ, S. E., .& Muntau, A. C. (2022). Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Molecular Genetics and Metabolism, 137(1-2), 114-126. [CrossRef] [PubMed]
Toptaş Demirci, P., & Lourenço, C. (2024). Effect of Exercise and Nutritional Lifestyle Intervention on Weight Control and Behavior Change Processes in Among Inactive Older Adults. International Journal of Active & Healthy Aging, 2(1), 1–9. [CrossRef]
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 International Journal of Active & Healthy Aging
This work is licensed under a Creative Commons Attribution 4.0 International License.
