Spectrum of Paediatric Lysosomal Storage Disorders in Oman = طيف إضطرابات الإختزان في الجسيمات الحالة عند الأطفال في عمان

Almundher A Al-Maawali,Roshan L Koul,Hilal S Al-Sedari,Amna M Al-Futaisi,Bader M Al-Amri,Ali A Al-Maawali,Surendra N Joshi

doi:10.12816/0003142

Abstract

The aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman. Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited metabolic diseases. Few studies on the birth prevalence and prevalence of LSDs have been reported from the Arabian Peninsula. We studied 86 children with LSDs diagnosed over a period of nine years, from June 1998 to May 2007. Detailed clinical data, including age of onset, sex, age and mode of first presentation, and presence of consanguinity were collected. Our data showed the combined birth prevalence for all LSDs in Oman to be around 1 in 4,700 live births. Sphingolipidoses was the most common group of disorder encountered (47.7%), followed by neuronal ceroid lipofuscinoses (NCL) (23.2%) and mucopolysaccharidoses (MPS) (23.2%). The proportion of consanguineous marriages in our series was found to be 87.5%. Our data represent the birth prevalence and clinical spectrum of such disorders in Oman, one of the highly consanguineous societies in the Middle East.

Highlights

The aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman
Late infantile neuronal ceroid lipofuscinosis (NCL) was the single most common disease diagnosed in our series (23%)
We report a combined birth prevalence of 1 in 4,700 live births for Lysosomal storage disorders (LSDs) in Oman

Summary

Introduction

Conclusion: Our data represent the birth prevalence and clinical spectrum of such disorders in Oman, one of the highly consanguineous societies in the Middle East. Lysosomal storage disorders (LSDs) are relatively rare inborn errors of metabolism, with a combined global birth prevalence of 1 in 1,500 to 7,000 live births.[1] They represent a group of more than 40 distinct genetic disorders.[2,3] Deficiency of lysosomal proteins or, less frequently, non-lysosomal proteins involved in lysosomal biogenesis, result in the accumulation of non-metabolised macromolecules.[4] Most of these disorders are inherited in an autosomal recessive manner, except Fabry’s disease and mucopolysaccharidoses type II (MPS II) which are inherited in an X-linked recessive manner.[4]. Potential treatments for some of these disorders are available in the form of enzyme replacement therapy (ERT) and bone marrow transplantation (BMT)

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Discussion

Conclusion