Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.

ABSTRACT: Cystathionine beta-synthase (CBS)-deficient homocystinuria (HCU) is the most common inborn error of sulfur amino acid metabolism. The pyridoxine non-responsive form of the disease manifests itself by massively increasing plasma and tissue concentrations of homocysteine, a toxic intermediate of methionine metabolism that is thought to be the major cause of clinical complications including skeletal deformities, connective tissue defects, thromboembolism and cognitive impairment. The current standard of care involves significant dietary interventions that, despite being effective, often adversely affect quality of life of HCU patients, leading to poor adherence to therapy and inadequate biochemical control with clinical complications. In recent years, the unmet need for better therapeutic opt

SUBMITTER: Majtan T 

PROVIDER: S-EPMC9822868 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature