Abstract
β-Galactosidase, β- N-acetyl glucosaminidase, β-glucuronidase, and glucose 6-phosphate dehydrogenase activities have been determined in extracts of cultured fibroblasts from individuals with the Type I, II, and III mucopolysaccharidoses, their parents, and normal controls. A wide range of specific activity was encountered for each of the enzymes with extensive overlap between all experimental groups. The only significant difference detected was an approximately 50% depression in the mean β-galactosidase activity in cells from mucopolysaccharidoses patients. The electrophoretic pattern of the β-galactosidase activity in fibroblasts from patients showed the presence of all of the forms seen in normal cells. These results along with other lines of reasoning, lead to the conclusion that the β-galactosidase defect seen in tissues from mucopolysaccharidoses patients, Type I, II, and III is probably not the primary genetic lesion.
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