Lysosomal storage disorders
- VernacularTitle:溶酶体贮积病
- Author:
Qu YONG
- Publication Type:Journal Article
- Keywords:
Lysosomal storage diseases;
Mucopolysaccharidoses;
Oligosaccharidoses;
Mucolipidoses;
Sphingolipidoses
- From:
Journal of Peking University(Health Sciences)
2006;38(1):100-102
- CountryChina
- Language:Chinese
-
Abstract:
Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention. This mini review summarizes clinical presentations and diagnostic workup of LSDs and updates the new development in the area.
