Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells.
Assay of alpha-L-iduronidase, heparin sulphamidase, N-acetyl-alpha-D-glucosaminidase, arylsulphatase B, alpha-L-fucosidase, beta-glucuronidase, beta-galactosidase and alpha-D-mannosidase in cultured cells is described. Activities in deficient fibroblast strains are compared to control fibroblast strains. The first case of Sanfilippo B in the United Kingdom is reported. A comparison of enzyme activities in cultured fibroblasts and amniotic fluid cells is made.
D000118:Acetylglucosaminidase / Q000172:deficiency; D000653:Amniotic Fluid / Q000201:enzymology*; D002478:Cells, Cultured; D002803:Chondro-4-Sulfatase / Q000172:deficiency; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000172:deficiency; D006801:Humans; D007068:Iduronidase / Q000172:deficiency; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology*; D013429:Sulfatases / Q000172:deficiency
D013429:Sulfatases; D002803:Chondro-4-Sulfatase; D006026:Glycoside Hydrolases; D000118:Acetylglucosaminidase; D007068:Iduronidase