title: Mucolipidosis III: two patients displaying genetic pleiotropism.
abstract: Two Cape Coloured 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 beta-D-galactosidase and alpha-L-fucosidase levels in fibroblast cultures from one 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.
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000032:analysis; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D009081:Mucolipidoses / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype
chemical_list: D006026:Glycoside Hydrolases