Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Enzymatic, histochemical, and ultrastructural studies were performed on cultured skin fibroblasts from patients with Fabry's disease, Tay-Sach's disease, and Sandhoff's disease and from their families (carriers). alpha-Galactosidase activity was deficient in the proband with Fabry's disease (lower in the homozygotes than in the heterozygote). Levels of hexosaminidase A in the patient with Tay-Sachs disease and hexosaminidase A and B in the patient with Sandhoff's disease were deficient and were lower in her mother than in the control subject. Lysosome-like structures were observed in cultured fibroblasts from the patients with each disease, as well as in the heterozygote with Fabry's disease and the carrier with Tay-Sach's disease. The amount of the accumulating arrays in the lysosome-like structures was related to low level of enzymatic activity.
D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D000795:Fabry Disease / Q000201:enzymology / Q000473:pathology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology*; D006596:Hexosaminidases / Q000032:analysis; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D012497:Sandhoff Disease / Q000201:enzymology / Q000473:pathology*; D013661:Tay-Sachs Disease / Q000201:enzymology / Q000473:pathology*; D000519:alpha-Galactosidase / Q000032:analysis
D006596:Hexosaminidases; D000519:alpha-Galactosidase