Glycolipid and Mucopolysaccharide Abnormality in Fibroblasts of Fabry's Disease

Abstract
Cultures of skin fiibroblasts from a patient with Fabry's disease showed an accumulation of the glycolipid, galactosyl-galactosyl-glucosyl ceramide. Such cells also showed metachromasia on staining with toluidine blue and a markedly elevated acid mucopolysaccharide content.