الفهرس 
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Abstract
Mucopolysaccharidosis (MPS) is a genetic, progressive and clinically heterogeneous disorder that usually involves multiple body system. It is a hereditary lysosomal storage disease occurs due to the deficiency of one of the enzymes that play a role in the metabolism of glycosaminoglycans (GAGS), which accumulates in multiple organs including bone, cartilage, tendons, corneas, skin and connective tissue. Different forms of MPS were described, their clinical presentations vary depending on the deficient enzyme and GAGS accumulated.
The aim of this work was to study clinical characterization in thirty-five patients suspected to have MPS and enzymatic diagnosis of each type. The included cases presented to the genetics outpatient clinic of Alexandria university children’s hospital during the period between 2016 and 2018.
The findings of the study were as follow:
- Family history was reported in 51.4% % of patients, consangious marriage was reported in 68.6% of patients, and the age of disease diagnosis ranged from 1.3 to 15 years.
- Hurler disease (MPS I) occurs due to α-L-iduronidase deficiency and presented by coarse facial features (100%), corneal clouding (100%), hepatosplenomegaly (100%), cardiac affection mainly in the form of mitral regurge (100%) and mitral valve prolapse(83.3%), delayed developmental mile stones (100%) and mental retardation (66.7%).