Global searching is not enabled.
Skip to main content
Book

Phenylalanine hydroxylase deficiency in children

Completion requirements
"last update: 16 Feb  2025"                                                                                                         Download Guideline

- References

1.     Abdel Baky A, Omar TEI, Amer YS; Egyptian Pediatric Clinical Practice Guidelines Committee (EPG). Adapting global evidence-based practice guidelines to the Egyptian healthcare context: the Egyptian Pediatric Clinical Practice Guidelines Committee (EPG) initiative. Bull Natl Res Cent. 2023;47(1):88. https://doi.org/10.1186%2Fs42269-023-01059-0

2.     Alshehri A, Almazrou S, Amer Y. Methodological frameworks for adapting global practice guidelines to national context in the Eastern Mediterranean Region. Eastern Mediterranean Health Journal. 2023 Jul 1;29(7). https://www.emro.who.int/emhj-volume-29-2023/volume-29-issue-7/methodological-frameworks-for-adapting-global-practice-guidelines-to-national-context-in-the-eastern-mediterranean-region.html

3.     Schünemann H, Brozek J, Guyatt G, Oxman A (editors). GRADE handbook: handbook for grading the quality of evidence and the strength of recommendations using the GRADE approach. Grading of Recommendations Assessment, Development and Evaluation (GRADE) Working Group; 2013 (Online updated version: https://gdt.gradepro.org/app/handbook/handbook.html Accessed 16/8/2024)

4.     Klugar M, Lotfi T, Darzi AJ, et al. GRADE Guidance 39: Using GRADE-ADOLOPMENT to adopt, adapt or create contextualized recommendations from source guidelines and evidence syntheses. Journal of Clinical Epidemiology. 2024 Aug 6:111494. https://doi.org/10.1016/j.jclinepi.2024.111494 (in press)

5.     Amer YS, Elzalabany MM, Omar TI, Ibrahim AG, Dowidar NL. The ‘Adapted ADAPTE’: an approach to improve utilization of the ADAPTE guideline adaptation resource toolkit in the A lexandria C enter for E vidence‐B ased C linical P ractice G uidelines. Journal of evaluation in clinical practice. 2015 Dec;21(6):1095-106. https://doi.org/10.1111/jep.12479

6.     Brouwers MC, Kho ME, Browman GP, Burgers JS, Cluzeau F, Feder G, Fervers B, Graham ID, Grimshaw J, Hanna SE, Littlejohns P, Makarski J, Zitzelsberger L; AGREE Next Steps Consortium. AGREE II: advancing guideline development, reporting and evaluation in health care. CMAJ. 2010 Dec 14;182(18):E839-42. https://doi.org/10.1503%2Fcmaj.090449  

7.     Agree II (2022) AGREE Enterprise website. Available at: https://www.agreetrust.org/resource-centre/agree-ii/  (Accessed: 16/8/2024).

8.     Song Y, Alonso-Coello P, Ballesteros M, et al. A Reporting Tool for Adapted Guidelines in Health Care: The RIGHT-Ad@pt Checklist[J]. Annals of Internal Medicine, 2022, 175(5):710-719. https://doi.org/10.7326/M21-4352  (Official RIGHT Statement Website: http://www.right-statement.org/extensions/13 Accessed 16/8/2024)

9.     Williams RA, Mamotte CD, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. 2008 Feb;29(1):31-41.

10.  Shoraka HR, Haghdoost AA, Baneshi MR, Bagherinezhad Z, Zolala F. Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis. Clin Exp Pediatr. 2020 Feb;63(2):34-43.

11.  Al Hafid N, Christodoulou J. Phenylketonuria: a review of current and future treatments. Transl Pediatr. 2015 Oct;4(4):304-17.

12.  Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J,ĐorđevićM, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, StojiljkovićM, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020;107(2):234. Epub 2020 Jul 14.

13.  Abdelaziz AE,   Fahim M, Samy S, Abu Elsood H,  Afifi S, Khafagy H, Abd El Fattah M, Elgunidy N, Kandeel A. Incidence and Risk Factors of Congenital Hypothyroidism and Phenylketonuria in Egypt: Results from Egypt National Newborn Screening Program, 2018-2021. TEPHINET.

14.  Shawky RM., El-Awady MY., Elsayed SM., Hamadan GE. Consanguineous matings among Egyptian population. Egyptian Journal of Medical Human Genetics. 2011 ; 12 (2) : 157-163.

15.  Chen, T., Xu, W., Wu, D. et al. Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. Sci Rep 2018 ; 8, 17137.

16.  van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria.

a.      Nat Rev Dis Primers. 2021 ;7(1):36. Epub 2021 May 20.

17.  Lowe TB, DeLuca J, Arnold GL. Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe. Orphanet J Rare Dis. 2020 Sep 25;15(1):266.

18.  Rocha JC, MacDonald A. Dietary intervention in the management of phenylketonuria: current perspectives. Pediatric Health Med Ther. 2016 ; (1)7:155-163.

19.  U.S. Food and Drug Administration Center for Drug Evaluation and Research. Kuvan. www.accessdata.fda.gov/scripts/cder/drugsatfda/index.cfm?fuseaction=Search.DrugDetails (Accessed on January 07, 2008).

20.  Douglas TD, Jinnah HA, Bernhard D, Singh RH. The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Mol Genet Metab. 2013 ;109(3):243. Epub 2013 May 1.