|
KMID : 0918520140140020182
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 2 p.182 ~ p.185
|
|
|
Type 2 GM1 Gangliosidosis Presented with Developmental Regression: A Case Report
|
|
Ko Jung-Min
Cho Tae-Joon
Chae Jong-Hee
|
|
|
Abstract
|
|
|
|
GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of β-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by β-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.
|
|
|
KEYWORD
|
|
|
GM1 gangliosidosis, GLB1, Lysosomal storage disease, Dysostosis multiplex
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|