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Lysosomal Storage Disorders in Egyptian Children
Mohamed A Elmonem1,2,3, Iman G Mahmoud4,5, Dina A Mehaney6,4
1Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.
Indian Journal of Pediatrics
|February 3, 2016
Summary
This study details lysosomal storage disorders in Egyptian children, finding mucopolysaccharidoses most common. Many patients lack optimal diagnosis, highlighting the need for improved genetic services in Egypt.
Area of Science:
- Medical Genetics
- Pediatric Metabolism
- Rare Diseases
Background:
- Lysosomal storage disorders (LSDs) are a group of rare genetic conditions.
- Accurate diagnosis and characterization of LSDs are crucial for patient management.
- Limited data exists on the spectrum and prevalence of LSDs in Egypt.
Purpose of the Study:
- To characterize the spectrum, relative frequency, and molecular basis of LSDs in Egyptian children.
- To evaluate a selective screening program for LSD diagnosis.
- To identify gaps in diagnostic and genetic services for LSDs in Egypt.
Main Methods:
- A six-year retrospective evaluation (2008-2014) of 1,065 suspected children at Cairo University Children's Hospital.
- Clinical, biochemical, and genetic assessments were performed.
- Analysis of diagnosed LSDs, including specific types and detected mutations.
Main Results:
- 211 children were diagnosed with 21 different LSDs.
- Mucopolysaccharidoses (44.5%) were the most common group; Maroteaux-Lamy (17.1%), Gaucher (14.7%), and nephropathic cystinosis (13.7%) were most frequent.
- 80 mutant alleles and 17 mutations were identified in 48 genetically assessed patients.
Conclusions:
- This is the first report on the relative frequency and molecular data of LSDs in a large Egyptian cohort.
- Over 80% of Egyptian LSD patients may lack access to optimal diagnosis.
- Enhancing diagnostic and genetic services for LSDs in Egypt is essential.
Keywords:
Egyptian childrenEnzymatic diagnosisGenetic testingInborn errors of metabolismLysosomal storage disordersTandem mass spectrometryMore Related Videos
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