Mucolipidosis III: two patients displaying genetic pleiotropism

Gericke, G. S. (1977-01)


The original publication is available at


Two Cape Colored siblings with typical features of Hurler's syndrome, but without mucopolysacchariduria or mucopolysaccharide accumulation in tissues, are presented. The clinical features, in conjunction with raised β D galactosidase and α L fucosidase levels in fibroblast cultures from 1 of the patients, suggest the diagnosis of a mucolipidosis. Theories relating to the intracellular deficiency and extracellular excess of lysosomal enzymes in these conditions are reviewed. Phenotypical and cell culture differences between 2 siblings who display the same overall clinical syndrome, illustrate the genetic pleiotropism inherent in this group of diseases.

Please refer to this item in SUNScholar by using the following persistent URL:
This item appears in the following collections: