Understanding the CBS Gene Mutation: Symptoms and Nutritional Recommendations
Key Takeaways The CBS gene encodes cystathionine beta-synthase, which converts homocysteine to cystathionine. CBS deficiency causes homocystinuria with high homocysteine levels, causing various diseases. Mutations in the CBS gene vary in response to vitamin B6 therapy. Diagnosis involves genetic testing for pathogenic variants and biochemical testing for homocysteine and methionine levels. Treatment options may include […]
