D1f. Pathway and Pathophysiology


MPSs have a unique pattern of GAG accumulation

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These seven MPSs all have a unique pattern of GAG accumulation. Of course, this depends on the specific enzyme that does not work. In MPS 3 only heparan sulfate cannot be degraded and accumulates in the lysosomes resulting in disease. In Morquio syndrome keratan sulfate is the glycosaminoglycan that cannot be degraded, and in both MPS 1 and 2 it’s both heparan sulfate and dermatan sulfate but because there is a different enzyme involved the nature of the heparan sulfate and dermatan sulfate that accumulate slightly differ causing different expression of the disease.

 

 

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