| GM2 Gangliosidosis II. |
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Seong Yon Choi, Jae Hyun Park, Joon Soo Lee, Chang Jun Coe, Si Hoon Han, Eun Ha Lee |
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. |
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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. |
| Key Words:
GM2 gangliosidosis II, Lysosomal storage disease, Hexosaminidase |
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