Cystathionine Beta-Synthase Deficiency
Cystathionine Beta-Synthase Deficiency is a rare genetic disorder that affects the body's ability to process certain amino acids, particularly homocysteine. This condition is caused by mutations in the CBS gene, which is responsible for producing an enzyme that helps convert homocysteine into cystathionine. When this process is disrupted, homocysteine levels can become elevated, leading to various health issues.
Individuals with this deficiency may experience symptoms such as developmental delays, intellectual disability, and cardiovascular problems. Early diagnosis and treatment, which may include dietary changes and vitamin supplementation, can help manage the condition and reduce the risk of complications.