title: beta-Galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis.
abstract: Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gangliosidosis is based on a different gene mutation than is present in types 1 and 2. No complementation is observed in fusion experiments with cells from type 3 variant.
mesh_terms: D000328:Adult; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency*; D005733:Gangliosidoses / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male
chemical_list: D005696:Galactosidases