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Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis

Mehdi Shokri1, Parviz Karimi1, Hadis Zamanifar2

  • 1Department of Pediatrics, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran.

BMC Pediatrics
|July 25, 2020
PubMed

Insights

Phenylketonuria (PKU) is a metabolic disorder found in Iranian newborns. Early detection through newborn screening and a low-phenylalanine diet are crucial for preventing PKU

Area of Science:

  • Medical Genetics
  • Metabolic Disorders
  • Public Health Screening

Background:

  • Phenylketonuria (PKU) is an autosomal recessive disorder affecting phenylalanine metabolism due to deficient phenylalanine hydroxylase activity.
  • Newborn screening programs are vital for early identification and management of PKU through low-phenylalanine diets.
  • This study focuses on the epidemiology of PKU screening in the Iranian newborn population.

Purpose of the Study:

  • To evaluate the epidemiology of phenylketonuria (PKU) screening among Iranian newborns.
  • To determine the prevalence of hyperphenylalaninemia (HPA) and PKU in Iran.
  • To analyze the prevalence data based on sex.

Main Methods:

  • Systematic review and meta-analysis conducted following MOOSE and PRISMA guidelines.
  • Comprehensive literature search across international and national databases.
  • Statistical analysis including heterogeneity assessment (I² index, Q test) and meta-analysis using Comprehensive Meta-Analysis Software.

Main Results:

  • Included 18 studies encompassing 3,339,327 Iranian neonates.
  • Overall prevalence of suspected hyperphenylalaninemia (HPA) was 45.6/100,000.
  • Prevalence of PKU was estimated at 16.5/100,000, with classical PKU at 4.4/100,000.

Conclusions:

  • PKU is a prevalent condition in Iranian neonates.
  • Early detection via newborn screening is critical for effective dietary management.
  • Timely intervention can prevent the clinical manifestations of PKU.
Abstract

Keywords:
IranMeta-analysisNewbornPhenylketonuria

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