Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.
On DEAE cellulose column chromatography, alpha-L-iduronidase in cultured skin fibroblasts was resolved into two distinct components, forms A and B. They had similar Km values for 4-methylumbelliferyl-alpha-L-iduronide, but differed in pH optima and thermal stability. Form B was more heat-stable than form A. Residual alpha-L-iduronidase activity in Hurler fibroblasts was heat-stable, while that in Scheie fibroblasts was heat-labile, and moreover, that in Hurler-Scheie compound fibroblasts lay intermediate between Hurler and Scheie syndromes. These findings demonstrated that Hurler syndrome, Scheie syndrome and Hurler-Scheie compound were enzymatically distinguishable.
D002478:Cells, Cultured; D002848:Chromatography, DEAE-Cellulose; D004796:Clinical Enzyme Tests; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000172:deficiency*; D006579:Heterozygote; D006358:Hot Temperature; D006801:Humans; D007068:Iduronidase / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D007700:Kinetics; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000235:genetics; D012867:Skin / Q000166:cytology
D006026:Glycoside Hydrolases; D007068:Iduronidase