Mucopolysaccharidosis

From Freepedia

The mucopolysaccharidoses (sometimes abbreviated MPS) are inborn errors of metabolism resulting from the deficiency of specific lysosomal enzymes needed in glycosaminoglycan catabolism. The glycosaminoglycans (GAGs) are complex carbohydrates that are major constituents of connective tissue. The symptoms depend on the specific enzyme affected and the GAG involved: dermatan, keratan, and chondroitin sulfate degradation products cause visceral manifestations, while heparan sulfate degradation products cause mental deficiencies.

Specific mucopolysaccharidoses include:

MPS-I H, Hurler's syndrome, α-L-iduronidase deficiency
MPS-I H/S, Hurler/Scheie syndrome
MPS-I S, Scheie's syndrome
MPS-II, Hunter syndrome, iduronate sulfatase deficiency
MPS-III A, Sanfilippo A syndrome, heparan-N-sulfatase
MPS-III B, Sanfilippo B syndrome, N-acetyl-α-glucosaminidase deficiency
MPS-III C. Sanfilippo C syndrome, α-glucoasminide N-acetyltransferase deficiency
MPS-III D, Sanfilippo D syndrome, N-acetylglucosamine-6-sulfate sulfatase deficiency
MPS-IV, Morquio syndrome, N-Acetylgalactosamine=6-sulfate sulfase deficiency
MPS VI, Maroteaux-Lamy syndrome, arylsulfatase B deficiency
MPS VII, Sly syndrome, β-glucuronidase deficiency