Physical features of Patients with Mucopolysaccharidoses and other correlated laboratorial examinations

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Background: Mucopolysaccharidoses (MPS) are genetic disorders of the catabolism of glycosaminoglycans (GAGs). MPS are categorized into different types; each type is caused by a deficiency in the activity of a specific lysosomal enzyme required for GAG degradation[1]. This study was designed to identify the physical features, assay the enzymatic deficiency and examine the hematological pictures in patients with different types of MPS. Methods: This cross-sectional study was conducted on 16 MPS patients, in the Pediatric department at Zagazig University Hospitals. Results: The age of children in the studied groups ranged between 7 to 17 years, height ranged between 88 to 120 cm, and weight range of 15 to 29 Kg but without statistically significant difference. There is statistically significant relation between type of MPS and urinary GACs. On doing Tukey HSD test, the ‎difference is significant between type I and II. Also, between type II and IV-A. However, type IV-A did not differ from type VI or I‎. There is statistically significant relation between type of MPS and mental delay. Only patients with type I and II had mental delay.‎ There is statistically non-significant difference between the studied groups with different types of MPS regarding ‎complete blood count except ‎platelet and lymphocytic count. There is statistically non-significant difference between the studied groups with different types of MPS regarding liver function tests. Conclusion: Diagnostic enzymatic assay in combination with different diagnostic tools as case history, physical features, hematological examination and liver function tests are essential for correct diagnosis and early interference

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