Prevalence and profile of inherited metabolic disorders in Libya: single center experience
1 Department of pediatrics, Faculty of Medicine, Misurata University, Libya.
2 Department of Pediatrics, Hamad Medical Corporation, Qatar.
3 Department of Therapeutic Nutrition, Faculty of Health Sciences, Misurata University, Misurata, Libya.
4 Department of Community, Environmental and Occupational Medicine, Faculty of Medicine Zagazig University, Zagazig, Egypt.
Research Article
World Journal of Biology Pharmacy and Health Sciences, 2022, 10(03), 060–064.
Article DOI: 10.30574/wjbphs.2022.10.3.0085
Publication history:
Received on 07 May 2022; revised on 19 June 2022; accepted on 21 June 2022
Abstract:
Background: Inherited Metabolic Disorders (IMDs) are collectively common, particularly in a highly consanguineous population. Early diagnosis and prompt treatment are crucial to prevent permanent damage to the central nervous system as well as other devastating irreparable damage and even death. This study was conducted to determine the prevalence of IMDs in children seen at the Pediatric Department, Faculty of Medicine, Misurata University, Libya.
Methods: In this cross-sectional study, medical records of all patients with IMDs over 6 years’ experience were studied. Related information to age, gender, consanguinity, family history, disorder type, diagnostic criteria and disease outcomes were extracted and analyzed. RESULTS: 57 patients were included in this study; 39 patients were male (68.4%) and 18 patients were females (31.6%) [M: F= 2.17:1] and the mean age at diagnosis was 1.9 years. Consanguinity was reported in 47 patients (82.5%), with family history being found in 71.9% of patients. 16 patients have mucopolysaccharidosis (28.1%), 11 patients have Glycogen storage diseases (19.3%),4 Nieman pick disease (7%), while the rest constitute the small molecular weight disease.
Conclusion: IMDs are an up growing field of medicine, initial baseline diagnostic tools could take place in any specialized center and newborn screening should be established in Libya because of the high prevalence of IMDs. The lysosomal storage diseases are particularly common; however, many were still undiagnosed.
Keywords:
Inborn Errors; Inherited; Metabolic Diseases; Prevalence
Full text article in PDF:
Copyright information:
Copyright © 2022 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0