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A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children

Sohier Yahia1,2, Abdel-Hady El-Gilany3, Rofaida M Magdy4

  • 1Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Scientific Reports
|November 29, 2025
PubMed

Insights

Early diagnosis of phenylketonuria (PKU) through newborn screening significantly reduces developmental delays. Adhering to a strict diet is crucial for managing PKU and preventing complications in children.

Area of Science:

  • Medical Genetics
  • Metabolic Disorders
  • Pediatric Neurology

Background:

  • Phenylketonuria (PKU) is a common inherited metabolic disorder requiring early intervention.
  • Neurodevelopmental complications in PKU can be prevented with timely diagnosis and management.
  • Understanding the PKU epidemiological profile in Egypt is essential for public health strategies.

Purpose of the Study:

  • To determine the epidemiological characteristics of PKU in Egypt.
  • To evaluate the impact of early diagnosis via newborn screening (NBS) on PKU outcomes.
  • To investigate the correlation between dietary adherence, comorbidities, and developmental/growth impairments in PKU patients.

Main Methods:

  • A multicenter retrospective cross-sectional study involving 365 PKU patients (0-18 years) in Egypt.
  • Data collection included demographics, phenotype, complications, and diet adherence.
  • Analysis focused on comparing outcomes between early and late-diagnosed patients and assessing the role of diet.

Main Results:

  • Classic PKU was the most frequent phenotype (36.3%).
  • Early diagnosis via NBS was achieved in 67.7% of patients, with high dietary adherence (79.5%).
  • Developmental delay was markedly lower in early-diagnosed (3.2%) versus late-diagnosed (100%) children. BH4 deficiency (1.6%) correlated with adverse outcomes despite early diagnosis. Diet adherence improved phenylalanine levels and reduced complications.

Conclusions:

  • Egypt's national NBS program effectively reduces neurodevelopmental issues in PKU.
  • Optimal PKU management hinges on early diagnosis, consistent dietary adherence, and awareness of BH4 deficiency.
  • Diet non-adherence negatively impacts neurodevelopment and growth in children with PKU.

Keywords:
BH4 deficiencyEpidemiologyMulticenter studyNeurodevelopmental complicationsNewborn screeningPhenylketonuria

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