|
The mucopolysaccharidoses 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's syndrome, iduronate sulfatase deficiency
- MPS-III A, Sanfillipo A syndrome, heparan-N-sulfatase
- MPS-III B, Sanfillipo B syndrome, N-acetyl-α-glucosaminidase deficiency
- MPS-III C. Sanfillipo C syndrome, α-glucoasminide N-acetyltransferase deficiency
- MPS-III D, Sanfillipo 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
(Note: MPS-V and MPS-VIII are no longer in use as designations for any disease.)
|
