Prevalence and profile of inherited metabolic disorders in Libya: single center experience

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