Disease Overview:

MPS disorders are rare autosomal recessive inherited genetic diseases.It involves defective activity of the lysosomal enzymes that degrade mucopolysaccharides (glycosaminoglycans [GAGs] attached to a link protein with a hyaluronic acid core) into smaller components. The resulting incomplete degradation process leads to abnormal accumulation of heparan sulfate, dermatan sulfate, and keratan sulfate, and the abnormal accumulation of these compunds interferes with cell function.Different forms of MPS were described separately throughout the 20th century and their clinical presentations vary, depending on the type of enzyme defect and the glycoprotein accumulated. 

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