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Spectrum of paediatric lysosomal storage disorders in oman

Almundher A Al-Maawali1, Surendra N Joshi, Roshan L Koul

  • 1Departments of Genetics and.

Sultan Qaboos University Medical Journal
|August 23, 2012
PubMed

Insights

The birth prevalence of lysosomal storage disorders (LSDs) in Oman is approximately 1 in 4,700 live births, with sphingolipidoses being the most common type. High consanguinity rates contribute to these genetic disorders.

Area of Science:

  • Medical Genetics
  • Metabolic Disorders
  • Paediatric Diseases

Background:

  • Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases with limited data from the Arabian Peninsula.
  • Understanding the prevalence and spectrum of LSDs is crucial for public health initiatives.

Purpose of the Study:

  • To determine the birth prevalence and clinical spectrum of paediatric lysosomal disorders in Oman.
  • To provide data on LSDs from a highly consanguineous population in the Middle East.

Main Methods:

  • A retrospective study of 86 children diagnosed with LSDs over nine years (1998-2007).
  • Collection of detailed clinical data, including onset, sex, presentation, and consanguinity.
  • Analysis of birth prevalence and disorder group frequencies.

Main Results:

  • The combined birth prevalence of LSDs in Oman was estimated at 1 in 4,700 live births.
  • Sphingolipidoses constituted 47.7% of cases, followed by neuronal ceroid lipofuscinoses (NCL) and mucopolysaccharidoses (MPS) at 23.2% each.
  • A high rate of consanguineous marriages (87.5%) was observed in the study population.

Conclusions:

  • This study provides essential data on the birth prevalence and clinical spectrum of LSDs in Oman.
  • High consanguinity in Oman is a significant factor associated with the observed prevalence of these genetic disorders.
Abstract

Keywords:
ArabsLysosomal storage disordersOmanPrevalence

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