Mucopolysaccharidosis Type II (Hunter’s Syndrome)-A Clinical Case Report
Journal Title: Journal of Medical Science And clinical Research - Year 2018, Vol 6, Issue 6
Abstract
he Mucopolysaccharidosis (MPS) are inherited lysosomal disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multiorgan system dysfunction. We report a rare case of Hunter syndromemucopolysacchordosis type II (MPS II) with clinical features including facial dysmorphism, hepatoslenomegaly, joint stiffness and contractures, mild mental retardation, valvular dysfunction.
Authors and Affiliations
Dr Anand Koppad
Keywords
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