Beta-galactosidase deficiency: studies of two patients with prolonged survival.
Two adults with beta-galactosidase deficiency were studied. Differences in a number of beta-galactosidase parameters (pH optima, heat denaturation, NaCl kinetics) were noted between the patients. Differences were also noted in beta-galactosidase electrophoretic mobilities and urinary oligosaccharides; however, there was no complementation in cell fusion studies. It is suggested that these two patients have different primary mutations at the beta-galactosidase locus which are probably structural in nature.
D000328:Adult; D002478:Cells, Cultured; D004588:Electrophoresis, Cellulose Acetate; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D005696:Galactosidases / Q000378:metabolism*; D006801:Humans; D006824:Hybridization, Genetic; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D007787:Lactose Intolerance / Q000201:enzymology / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D009154:Mutation; D009844:Oligosaccharides / Q000652:urine; D001616:beta-Galactosidase / Q000378:metabolism*
D009844:Oligosaccharides; D005696:Galactosidases; D001616:beta-Galactosidase