The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

Ashraf El-Metwally1,2, Lujane Yousef Al-Ahaidib3, Alaa Ayman Sunqurah1

  • 1King Abdullah International Medical Research Center (KAIMRC) and College of Public Health and Health Informatics, King Saud Bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia.

Insights

Phenylketonuria (PKU) prevalence in Arab countries, Turkey, and Iran varies, with Turkey reporting the highest rate (0.0167%) and UAE the lowest (0.005%). This highlights the need for improved PKU screening and reporting systems in the region.

Area of Science:

  • Medical Genetics
  • Public Health
  • Pediatrics

Background:

  • Phenylketonuria (PKU) is a rare genetic disorder.
  • Consanguinity is a known risk factor for recessive genetic disorders.
  • Newborn screening programs are crucial for early detection and management of PKU.

Purpose of the Study:

  • To determine the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran.
  • To assess the availability and comprehensiveness of national newborn screening programs for PKU in these regions.
  • To review reported consanguinity rates in relation to PKU prevalence.

Main Methods:

  • A comprehensive literature search was performed using relevant keywords to identify studies on PKU.
  • A total of 34 articles were included in the review.
  • PKU prevalence data was categorized based on the diagnostic screening methods employed.

Main Results:

  • The prevalence of classical PKU, identified through national newborn screening, ranged from 0.005% to 0.0167%.
  • Turkey reported the highest PKU prevalence at 0.0167%.
  • The United Arab Emirates (UAE) showed the lowest prevalence at 0.005%.

Conclusions:

  • The study underscores the necessity for enhanced reporting systems in the studied countries.
  • Improved systems are needed to accurately measure Disability-Adjusted Life Year (DALY).
  • Estimating the societal burden of PKU requires robust data collection and analysis.
Abstract

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