Nursing care in Phenylketonuria: a scoping review
DOI:
https://doi.org/10.62741/ahrj.v3i2.147Keywords:
phenylketonurias, nursing care, quality of life, health literacy, medication adherenceAbstract
Introduction: Phenylketonuria is a rare inherited metabolic disorder which, in the absence of early diagnosis and treatment, can lead to irreversible neurological damage.
Objective: To map the available evidence on the physical and psychological impacts of phenylketonuria and its treatment, highlighting the contribution of nursing in the follow‑up of these individuals and their families.
Methodology: A scoping review was conducted according to the Joanna Briggs Institute methodological guidance for scoping reviews and reported in line with the PRISMA-ScR extension, using the PCC strategy to structure the research question and identifying studies in the CINAHL, MEDLINE (via PubMed), and EBSCOhost platform, published between 2011 and 2024.
Results: Adherence to the restrictive diet emerged as the main challenge, affecting metabolic control, psychological well-being, and quality of life. The included studies consistently highlight the involvement of nurses in health literacy promotion, therapeutic education, emotional support, and care coordination, although nursing-specific interventions are often poorly described and underreported.
Conclusion: Nursing practice in rare metabolic diseases such as phenylketonuria should evolve toward more specialized and person-centered interventions that are clinically effective and tailored to the complex biopsychosocial needs of individuals with PKU and their families. However, the current evidence base provides limited detail on specific nursing interventions, underscoring the need for further research that clearly defines, implements, and evaluates nursing roles in this field.
References
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. European guidelines on diagnosis and treatment of phenylketonuria: First revision. Mol Genet Metab. 2025;145(2):109125. doi:10.1016/j.ymgme.2025.109125
Ferreira F, Azevedo L, Neiva R, Sousa C, Fonseca H, Marcão A, Rocha H, Carmona C, Ramos S, Bandeira A, Martins E, Campos T, Rodrigues E, Garcia P, Diogo L, Ferreira AC, Sequeira S, Silva F, Rodrigues L, Gaspar A, … Vilarinho L. Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses. Mol Genet Genomic Med. 2021;9(3):e1559. doi:10.1002/mgg3.1559
Gonçalves MM, Marcão A, Sousa C, Nogueira C, Fonseca H, Rocha H, Vilarinho L. Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS. Int J Neonatal Screen. 2024;10(1):25. doi:10.3390/ijns10010025
Pinto A, Daly A, Evans S, Ashmore C, MacDonald A. Navigating Adolescence with PKU: Adherence, Metabolic Control, and Wellbeing in a UK Clinical Centre. Nutrients. 2025;17(21):3409. doi:10.3390/nu17213409
Reach G. Phenylketonuria as an Adherence Disease. Patient Prefer Adherence. 2025;19:1059-1073. doi:10.2147/PPA.S512719
Jahangiri Z, Rostampour N, Hovsepian S, Chegini R, Hashemipour M. Quality of Life in Patients with Phenylketonuria: A Systematic Review. Adv Biomed Res. 2024;13:15. doi:10.4103/abr.abr_238_23
Remor E, Gabe KM, Teruya KI, Doederlein Schwartz IV. What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review. Orphanet J Rare Dis. 2024;19(1):402. doi:10.1186/s13023-024-03422-4
Shaji Thomas D, K YD, Arulappan J. Health-related quality of life of caregivers of children and adolescents with phenylketonuria: A systematic review. Glob Pediatr Health. 2021;8:2333794X211065333. doi:10.1177/2333794X211065333
Andrews A, McMinimee K. Navigating social determinants of health barriers in the management of phenylketonuria. Mol Genet Metab Rep. 2024;39(Suppl 1):101080. doi:10.1016/j.ymgmr.2024.101080
El-Samie Ismail EMA, Elarousy WM, Badawe SSM, et al. Evaluation of primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria in Alexandria. BMC Nurs. 2025;24:145. doi:10.1186/s12912-025-02719-4
Aromataris E, Munn Z, eds. JBI Manual for Evidence Synthesis. Adelaide, Australia: JBI; 2020. Accessed March 21, 2026. https://synthesismanual.jbi.global
Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, … Moher D. The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. BMJ. 2021;372:n71. doi:10.1136/bmj.n71
Critical Appraisal Skills Programme (CASP). CASP Checklists. 2018. Available at: https://casp-uk.net/casp-tools-checklists/. Accessed March 21, 2026.
Tricco AC, Lillie E, Zarin W, O’Brien KK, Colquhoun H, Levac D, Moher D, Peters MD, Horsley T, Weeks L. PRISMA extension for scoping reviews (PRISMA-ScR): Checklist and explanation. Ann Intern Med. 2018;169(7):467-473. doi:10.7326/M18-0850
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. PKU dietary handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020;15(1):520. doi:10.1186/s13023-020-01391-y
Bélanger-Quintana A, Burlina A, Harding CO, Muntau AC. Up to date knowledge on different treatment strategies for phenylketonuria. Mol Genet Metab. 2011;104(Suppl):S19-S25. doi:10.1016/j.ymgme.2011.08.009
Altman G, Hussain K, Green D, Strauss BJG, Wilcox G. Mental health diagnoses in adults with phenylketonuria: A retrospective systematic audit in a large UK single centre. Orphanet J Rare Dis. 2021;16:520. doi:10.1186/s13023-021-02138-z
Nematollahi M, Mehdipour-Rabori R, Bagheryan B. Spirituality, a Path to Peace: The Experiences of Parents Who Have Children With Phenylketonuria. J Relig Health. 2021;60:374-388. doi:10.1007/s10943-019-00903-w
Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M, Polo G, Burlina A. Living with phenylketonuria in adulthood: The PKU ATTITUDE study. Mol Genet Metab Rep. 2018;16:39-45. doi:10.1016/j.ymgmr.2018.06.007
Figueiredo A, Jorge R. Intervenção alimentar e nutricional na prevenção de deficiências intelectuais e cognitivas em crianças com fenilcetonúria. Acta Port Nutr. 2024;39:44-49. doi:10.21011/apn.2024.3908
Huijbregts S, Romani C. Cognitive Functioning in Phenylketonuria: A Lifespan Perspective. Nutrients. 2026;18(1):146. Published 2026 Jan 1. doi:10.3390/nu18010146
Neto EV, Filho HSM, Monteiro CB. Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients. scite.ai. https://scite.ai/reports/quality-of-life-and-adherence-684nGRX. Published 2025. Accessed March 21, 2026.
Ahmad MH, Ali M, Hassan M, et al. The Emotional and Psychological Impact on Families Raising Children With Special Needs: A Primary Care Perspective. Health Sci Rep. 2026;9(3):e71928. Published 2026 Mar 8. doi:10.1002/hsr2.71928
Pant U, Vyas K, Papathanassoglou E. Psychosocial Support Interventions for Adult Critically Ill Patients During the Acute Phase of Their ICU Stay: A Scoping Review. Healthcare. 2025; 13(17):2182. https://doi.org/10.3390/healthcare13172182
Mbedzi TE, van der Wath AE, Moagi MM. Psychosocial Interventions for Families Caring for Mental Health Care Users: A Nominal Group Technique. J Psychiatr Ment Health Nurs. 2025;32(5):1131-1141. doi:10.1111/jpm.70008
Xue M, Shen M, Wang S, et al. Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years. Orphanet J Rare Dis. 2025;20(1):297. Published 2025 Jun 11. doi:10.1186/s13023-025-03824-y
Bosch AM, Burlina A, Cunningham A, et al. Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet J Rare Dis. 2015;10:80. Published 2015 Jun 18. doi:10.1186/s13023-015-0294-x
Aitkenhead L, et al. Long-term cognitive and psychosocial outcomes in adults with early-treated phenylketonuria. J Inherit Metab Dis. 2021;44(6):1321-1335. doi:10.1002/jimd.12345
Oliveira…
Hassan MF, Ouda WE-S, Ismail SS. Effect of nursing intervention on adjustment patterns of children suffering from phenylketonuria. Curr Pediatr Res. 2016. Available at: https://www.currentpediatrics.com/abstract/effect-of-nursing-intervention-on-adjustment-patterns-of-children-suffering--from-phenylketonuria-23375.html. Accessed March 21, 2026.
Hendy A, El-Sayed S, Salah SM, Abuhammad S, Hendy A, Abdallah ZA. Neonatal nurses' performance in implementing the advancing newborn screening of critical congenital heart disease. BMC Nurs. 2025;25(1):93. Published 2025 Dec 30. doi:10.1186/s12912-025-04219-x
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