Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts

Science  18 Aug 1967:
Vol. 157, Issue 3790, pp. 804-806
DOI: 10.1126/science.157.3790.804


Fibroblasts were cultured from the cells of two children who shared some characteristics of Hurler syndrome, but they did not show corneal clouding and excessive excretion of mucopolysaccharides. The fibroblasts differ from those of controls and of patients with typical Hurler syndrome or other mucopolysaccharidoses in that they have abundant cytoplasmic inclusions, striking diminutions in beta-glucuronidase, and elevations in acid phosphatase.