Barbara Burton, MD, of Northwestern University Feinberg School of Medicine, provides an overview of the various mucopolysaccharidosis (MPS) conditions.
The MPSs are a group of lysosomal storage disorders that include MPS I (e.g., Hurler syndrome), MPS II (Hunter syndrome), MPS III (Sanfilippo syndromes), MPS IV (Morquio syndrome), MPS VI (Marateaux-Lemy syndrome) and MPS VII (Sly syndrome).
The underlying cause of the conditions are low activity of specific enzymes that lead to the accumulation of complex carbohydrates in various organs/tissue, The net result is a variety of peripheral and central symptoms that often requires a team of health care professionals. In addition to supportive and symptomatic therapy, several of the conditions can be treated with enzyme replacement therapy (ERT). Since these are genetic conditions that result in dysfunctional enzyme activity, gene therapies are under investigation for many of these conditions as well.
|MPS Type||Common Name||Gene Mutation||Treatment|
|MPS I||Hurler syndrome||IDUA||HSCT, ERT, symptomatic/supportive|
|MPS II||Hunter syndrome||IDS||ERT, symptomatic/supportive|
|MPS III||Sanfilippo syndromes (numerous subtypes)||GNS, HGSNAT, NAGLU, SGSH||Symptomatic/supportive|
|MPS IV||Morquio syndrome||GALNS, GLB1||ERT, symptomatic/supportive|
|MPS VI||Marateaux-Lemy syndrome||ARSB||ERT, symptomatic/supportive|
|MPS VII||Sly syndrome||GUSB||ERT, symptomatic/supportive|
To learn more about these conditions and obtain CME credit, visit checkrare.com/learning/mps-highlights