Genotype-Informed Care in Pediatric Phenylketonuria: Linking PAH Variants to Individualized Management

Authors

  • Mervat Abdallah Hesham , Khaled Mohamed Salah , Hayam Mohamed Elsayed Elgohary , Elham Magdy Hassan , Ahmed Hesham Sedek Refay

Keywords:

phenylketonuria; PAH gene; genotype-phenotype correlation; sapropterin; pediatric nutrition

Abstract

Background: PAH deficiency is genetically heterogeneous, and molecular information increasingly informs pediatricphenylketonuria (PKU) care. Aim: To review genotype-informed diagnosis and individualized treatment of childrenwith PKU. Methods: Narrative review of literature indexed in PubMed and related biomedical databases, together with contemporary guidance. Results: PAH genotyping supports diagnosis

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References

van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12:162.

Smith WE, Berry SA, et al. A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics for the diagnosis and management of phenylalanine hydroxylase deficiency. Genet Med. 2025;27(1):101303

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Published

2024-03-20

How to Cite

Mervat Abdallah Hesham , Khaled Mohamed Salah , Hayam Mohamed Elsayed Elgohary , Elham Magdy Hassan , Ahmed Hesham Sedek Refay. (2024). Genotype-Informed Care in Pediatric Phenylketonuria: Linking PAH Variants to Individualized Management . Pegem Journal of Education and Instruction, 14(3), 1253–1262. Retrieved from https://www.pegegog.net/index.php/pegegog/article/view/5314

Issue

Vol. 14 No. 3 (2024): PEGEGOG

Section

Article

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