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GM1-gangliosidosis. A variant with high activity of hepatic neutral β-galactosidase

✍ Scribed by Yoshiyuki Suzuki; Taketoshi Hayakawa; Makoto Yazaki; Yoshiki Hiratani

Publisher
Springer
Year
1976
Tongue
English
Weight
619 KB
Volume
122
Category
Article
ISSN
0340-6997

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✦ Synopsis

A case of GMl-gangliosidosis with high activity of hepatic neutral fi-galactosidase is reported. Gl~ii-fi-galactosidase was deficient. Ganglioside G5I 1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and macular cherry-red spots, but lacked gargoylelike clinical characteristics. Correlation of clinical and biochemical data is discussed.

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