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KMID : 0391519990070020244
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Journal of the Korean Child Neurology Society
1999 Volume.7 No. 2 p.244 ~ p.249
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GM2 Gangliosidosis II
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Choi Seong-Yon
Park Jae-Hyun
Lee Joon-Soo
Coe Chang-Jun
Han Si-Hoon
Lee Eun-Ha
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Abstract
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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.
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KEYWORD
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GM2 gangliosidosis II, Lysosomal storage disease, Hexosaminidase
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