Type 3 (adult) GM1 gangliosidosis: case report.
GM1 gangliosidosis is usually a pediatric disease caused by hereditary acid beta-galactosidase deficiency. There have been a few cases in adults. We saw a 51-year-old Japanese man with type 3 GM1 gangliosidosis who was manifesting dementia, dysarthria, gait disturbance, and limb rigidity. Radiologic studies showed platyspondylia, acetabular hypoplasia, and flattened femoral heads. Biochemical analysis revealed generalized acid beta-galactosidase deficiency.
D005677:G(M1) Ganglioside / Q000032:analysis; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D008297:Male; D008875:Middle Aged; D001616:beta-Galactosidase / Q000032:analysis
D005677:G(M1) Ganglioside; C029616:4-methylumbelliferyl-beta-galactosidase; D001616:beta-Galactosidase