Mucopolysaccharidosis and mucolipidosis.
- Author:
Soo Hee CHANG
1
;
Seng Mi SONG
;
Woo Yun SOHN
;
Dong Kyu JIN
Author Information
1. Clinical Research Center, Samsung Biomedical Research Institute, Seoul Korea.
- Publication Type:Review
- Keywords:
Mucopolysaccharidosis;
Mucolipidosis;
Genetic disorders;
Lysosomal enzymes
- MeSH:
Bone Marrow Transplantation;
Enzyme Replacement Therapy;
Glycosaminoglycans;
Mucolipidoses*;
Mucopolysaccharidoses*
- From:Hanyang Medical Reviews
2005;25(3):27-36
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Mucopolysaccharidosis (MPS) and mucolipidosis(ML) belong to a group of rare genetic disorders of lysosomal enzymes and share some clinical manifestations. MPS is characterized by the accumulation of glycosaminoglycans (GAG) and results from the impaired function of one of 11 enzymes required for normal GAG degradation. ML, which is clinically similar to several forms of MPS, is caused by deficiency of Nacetylglucosamine-1-phosphotransferase activity. Therapeutic strategies for MPS, including enzyme replacement therapy and bone marrow transplantation, have been developed with some success. In this review, we discuss clinical feature, diagnostic methods, management and the present status of research on MPS and ML.
