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.