Mucolipidosis III: two patients displaying genetic pleiotropism
Date
1977-01
Authors
Gericke, G. S.
Journal Title
Journal ISSN
Volume Title
Publisher
HMPG
Abstract
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.
Description
Article
The original publication is available at http://www.samj.org.za
The original publication is available at http://www.samj.org.za
Keywords
Mucolipidosis type 3 -- Diagnosis, Lysosomal storage diseases -- Etiology, Pleiotropism -- Genetic aspects, Lysosomal storage diseases -- Diagnosis, Hurler's syndrome
Citation
Gericke, G. S. 1977. Mucolipidosis Ill: Two Patients Displaying Genetic
Pleiotropism. South African Medical Journal, 29 January : 140-144