Modeling of Mutant Cystathionine beta-Synthase with Severity of Its Deficiency

Cystathionine β-synthase deficiency is an inborn error of metabolism that is biochemically characterized by severe hyperhomocysteinemia and homocystinuria. Numerous cystathionine β-synthase mutants have so far been found in patients with cystathionine β-synthase deficiency. In this study, we use the cross-impact analysis to model the cystathionine βsynthase mutants with their clinical endpoints, and found the probability that the severity of cystathionine β-synthase deficiency can be determined under mutations. Our results show that a patient with cystathionine β-synthase deficiency has about one third chance of being defined severity when a new mutation is found in human cystathionine β-synthase.