Spectrum of Paediatric Lysosomal Storage Disorders in Oman
Journal Title: Sultan Qaboos University Medical Journal - Year 2012, Vol 12, Issue 3
Abstract
Objectives: Te 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. Methods: 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 frst presentation, and presence of consanguinity were collected. Results: 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%). Te proportion of consanguineous marriages in our series was found to be 87.5%. 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.
Authors and Affiliations
Almundher A Al-Maawali| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Surendra N Joshi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Roshan L Koul| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Ali A Al-Maawali| College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman, Hilal S Al-Sedari| College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman, Bader M Al-Amri| College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman, Amna M Al-Futaisi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
Keywords
Related Articles
- EP ID EP14237
- DOI -
- Views 297
- Downloads 8
Ozone-Oxidative Preconditioning Prevents Doxorubicin-induced Cardiotoxicity in Sprague-Dawley Rats
Objectives: Induced dilated cardiomyopathy is the main limitation of the anti-cancer drug doxorubicin, which causes oxidative stress and cardiomyocyte death. As ozone therapy can activate the antioxidant systems, this...
A Tribute to Professor Musallem EIBuaIy: A Pioneer in Child Health Services
Losing a hero in the early hours of June 25th 1997 filled our heart with sorrow, but also with a great sense of pride for having known and worked with this extraordinary man who transformed health care for children in th...
Prevalence and Impact of Dysmenorrhoea among Omani High School Students
Objectives: Te objectives of this study were to determine the prevalence of dysmenorrhoea in Omani high schoolgirls, its impact and the treatment used. Methods: A cross-sectional survey was carried out in May 2010 on 4...
Validity and Reliability of the Clinical Competency Evaluation Instrument for Use among Physiotherapy Students Pilot study
Objectives: Te aim of this study was to determine the content validity, internal consistency, testretest reliability and inter-rater reliability of the Clinical Competency Evaluation Instrument (CCEVI) in assessing the...
Hypoglycaemia Among Insulin-Treated Patients with Diabetes: Evaluation of the United Arab Emirates cohort of the International Operations-Hypoglycaemia Assessment Tool study
Objectives: This study aimed to evaluate the incidence of hypoglycaemia among insulin-treated patients with type 1 diabetes mellitus (T1DM) or type 2 diabetes mellitus (T2DM) from the United Arab Emirates (UAE) cohort of...