J Korean Child Neurol Soc.
1999 Dec;7(2):244-249.
GM2 Gangliosidosis II
- Affiliations
-
- 1Department of Pediatrics, Yonsei University, College of Medicine, Korea.
- 2The Institute of Handicapped Children, Korea.
- 3Department of Pediatrics, Ajou University School of Medicine, Korea.
- 4Laboratory of Biochemical and Molecular Medicine, Korea.
Abstract
- GM2 gangliosidosis II(Sandhoff disease) is a lysosomal storage disease due to deficiency of beta-hexosaminidase activity, transmitted by mode of autosomal recessive. Clinical features are so variable, ranging from infantile onset resulting death before 4 years, to subacute or chronic forms with more slowly progressive neurologic condition. We experienced a case of GM2 gangliosidosis II in a 14 months old male who had developmental deterioration and seizures, so we report and review the related literatures.
