ArticleJIMD reports2013
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Article in JIMD reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- A systematic review on the birth prevalence of metachromatic leukodystrophy.Orphanet journal of rare diseases · 2024Pooled it
- Epidemiology of Sanfilippo syndrome: results of a systematic literature review.Orphanet journal of rare diseases · 2018Pooled it
- A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.Orphanet journal of rare diseases · 2014Pooled it
- 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.Journal of inherited metabolic disease · 2026Review
- Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis.BioData mining · 2026Article
- Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.JIMD reports · 2025Article
- Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in theFrontiers in genetics · 2024Article
- Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.Frontiers in pharmacology · 2024Review
- Biochemical diagnosis of Sanfilippo disorder types A and B.Journal, genetic engineering & biotechnology · 2023Article
- Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.Orphanet journal of rare diseases · 2022Review
- Prevalence of lysosomal storage disorders in Australia from 2009 to 2020.The Lancet regional health. Western Pacific · 2022Article
- Development of the pharmacogenomics and genomics literacy framework for pharmacists.Human genomics · 2021Article
- Article
- Case Report: Reinterpretation and Reclassification ofFrontiers in pediatrics · 2021Article
- Article
- The incidence rate of hospitalized lysosomal storage diseases in Poland in 2013-2015 based on data from the National Health Fund.Pediatric endocrinology, diabetes, and metabolism · 2021Article
- Genomic Landscape of the Mitochondrial Genome in the United Arab Emirates Native Population.Genes · 2020Article
- Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.The Clinical biochemist. Reviews · 2020Review
- A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.Journal of molecular neuroscience : MN · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage disorders (LSD) are rare entities of recessive inheritance. The presence of a "founder" mutation in isolated communities with a high degree of consanguinity (e.g., tribes in the Middle East North Africa, MENA, region) is expected to lead to unusually high disease prevalence. The primary aim of this study was to estimate the prevalence of LSD and report their mutation spectrum in UAE. Between 1995 and 2010, 119 patients were diagnosed with LSD (65 Emiratis and 54 non-Emiratis). Genotyping was performed in 59 (50 %) patients (39 Emirati from 17 families and 20 non-Emiratis from 17 families). The prevalence of LSD in Emiratis was 26.9/100,000 live births. Sphingolipidoses were relatively common (9.8/100,000), with GM1-gangliosidosis being the most prevalent (4.7/100,000). Of the Mucopolysaccharidoses VI, IVA and IIIB were the predominant subtypes (5.5/100,000). Compared to Western countries, the prevalence of fucosidosis, Batten disease, and α-mannosidosis was 40-, sevenfold, and fourfold higher in UAE, respectively. The prevalence of Pompe disease (2.7/100,000) was similar to The Netherlands, but only the infantile subtype was found in UAE. Sixteen distinct LSD mutations were identified in 39 Emirati patients. Eight (50 %) mutations were reported only in Emirati, of which three were novel [c.1694G>T in the NAGLU gene, c.1336 C>T in the GLB1 gene, and homozygous deletions in the CLN3 gene]. Twenty-seven (42 %) patients were clustered in five of the 70 Emirati tribes. These findings highlight the need for tribal-based premarital testing and genetic counseling.
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