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