Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.

摘要: Fibroblast extracts from 20 individuals with homocystinuria due to cystathionine beta-synthase deficiency were analyzed for the presence of immunoreactive synthase antigen as cross-reacting material (CRM). CRM was quantitated by competitive and direct immunotitration using rabbit antiserum against homogeneous human liver synthase. The lower limit sensitivity detection 1.5% amount in control extracts. Each 14 mutant detectable activity had ranging 5% 100% found No statistically significant correlation observed between percent residual CRM. Of six without measurable catalytic activity, three no CRM, while 13%, 17%, 26% respectively. These results extend our information about biochemical heterogeneity previously deficiency, emphasize that such is caused a wide array mutations affecting structural locus beta-synthase.