GM2 Gangliosidosis II
Journal of the Korean Child Neurology Society
;
: 244-249, 1999.
Article
in Korean
| WPRIM
| ID: wpr-185447
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Beta-N-Acetylhexosaminidases
/
Lysosomal Storage Diseases
/
Gangliosidoses, GM2
/
Hexosaminidases
Limits:
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
1999
Type:
Article
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