Physical features of Patients with Mucopolysaccharidoses and other correlated laboratorial examinations

Abstract

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 GAGs 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 was statistically significant relation  between type of MPS and urinary GACs. On doing Tukey’s HSD (honestly significant difference) test, the difference was 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 was statistically significant  relation between type of MPS and mental delay. Only patients with type I and II had mental delay. There was statistically non-significant  difference between the studied groups with different types of MPS regarding complete blood count (CBC) except platelet and  lymphocytic count. There was 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 were essential for correct diagnosis and early interference.