5th February 2024

Pathophysiology

Glycosaminoglycans, or mucopolysaccharides, are the degradation products of proteoglycans in the extracellular matrix and are proteolytic cleaved, giving origin to GAGs, which enter the lysosome for intracellular digestion. There are four different pathways:

• Dermatan sulfate
• Heparan sulfate
• Keratan sulfate
• Chondroitin sulfate

Mucopolysaccharidoses (MPs) are a group of inherited lysosomal storage disorders in which the abnormal accumulation of specific carbohydrate complexes can cause chronic and progressive symptoms with varying severity. Features can include organomegaly, dysostosis multiplex and characteristic abnormal facies. Definitive diagnosis is enzymatic assays of the defective enzyme in cultured fibroblasts, leucocytes, and serum or plasma. MPs are inherited in an autosomal recessive fashion, except MPS II (Hunter syndrome), which is X-linked.