GM2 Gangliosidosis II.
- Author:
Seong Yon CHOI
1
;
Jae Hyun PARK
;
Joon Soo LEE
;
Chang Jun COE
;
Si Hoon HAN
;
Eun Ha LEE
Author Information
- Publication Type:Original Article
- Keywords: GM2 gangliosidosis II; Lysosomal storage disease; Hexosaminidase
- MeSH: beta-N-Acetylhexosaminidases; Gangliosidoses, GM2*; Hexosaminidases; Humans; Infant; Lysosomal Storage Diseases; Male; Seizures
- From: Journal of the Korean Child Neurology Society 1999;7(2):244-249
- CountryRepublic of Korea
- Language:Korean
- 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.
