Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase.
A case of GM1-gangliosidosis with high activity of hepatic neutral beta-galactosidase is reported. GM1-beta-galactosidase was deficient. Ganglioside GM1 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.
D002855:Chromatography, Thin Layer; D005260:Female; D005696:Galactosidases / Q000032:analysis; D005732:Gangliosides / Q000032:analysis; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007223:Infant; D008099:Liver / Q000032:analysis / Q000201:enzymology
D005732:Gangliosides; D005696:Galactosidases