Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease.
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.
D000328:Adult; D000794:Angiokeratoma / Q000378:metabolism / Q000473:pathology*; D001168:Arthritis / Q000378:metabolism / Q000473:pathology*; D001706:Biopsy; D046508:Culture Techniques; D005347:Fibroblasts / Q000378:metabolism*; D006017:Glycolipids / Q000378:metabolism*; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D008297:Male; D012867:Skin / Q000378:metabolism*
D006017:Glycolipids; D006025:Glycosaminoglycans