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Diagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource-Constrained Middle Eastern Country

Nadine Yazbeck1, Rudy N Zalzal2, Fadi El Oueichek2

  • 1Division of Gastroenterology and Nutrition, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

International Journal of Pediatrics
|September 8, 2025
PubMed

Insights

Phenylalanine-restricted diets appear to support growth in children with classical phenylketonuria (PKU). However, late diagnosis and limited newborn screening in Lebanon hinder neurotypical development for PKU patients.

Area of Science:

  • Metabolic disorders
  • Genetics
  • Pediatrics

Background:

  • Limited data exists on classical phenylketonuria (PKU) diagnosis and outcomes in low-income Middle Eastern nations.
  • The impact of the PKU diet on growth remains a subject of debate.
  • This study investigates PKU diagnosis, outcomes, and growth in Lebanon.

Purpose of the Study:

  • To examine the diagnosis, outcomes, and growth of classical PKU patients.
  • To assess the effects of a phenylalanine-restricted Mediterranean diet on growth parameters.
  • To analyze the challenges in achieving neurotypical outcomes in resource-constrained settings.

Main Methods:

  • A 15-year retrospective chart review of PKU patients (2008-2023) at a Lebanese medical center.
  • Analysis of age at diagnosis, molecular profiles, neurological status, anthropometry, diet, and metabolic control.
  • Inclusion criteria applied to 35 out of 82 reviewed patient charts.

Main Results:

  • Most patients (35/82) were diagnosed late (average age: 4 years), resulting in poor neurological outcomes.
  • The common Mediterranean PKU variant IVS10-11G>A was found homozygously in 63% of patients.
  • No significant differences in BMI or height-for-age z-scores were observed during the study period for patients on the diet.

Conclusions:

  • A phenylalanine-restricted Mediterranean diet may preserve growth parameters in classical PKU.
  • Achieving neurotypical outcomes is challenging due to the lack of systematic newborn screening in Lebanon.
  • High consanguinity rates and resource constraints further complicate PKU management in Lebanon.

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