Cystathionine Metabolism Disorders
Cystathionine metabolism disorders are genetic conditions that affect the body's ability to process certain amino acids, particularly cystathionine. These disorders often result from deficiencies in specific enzymes, such as cystathionine beta-synthase or cystathionine gamma-lyase, leading to an accumulation of toxic substances in the body. Symptoms can vary widely and may include developmental delays, neurological issues, and cardiovascular problems.
Diagnosis typically involves blood and urine tests to measure levels of homocysteine and other metabolites. Treatment may include dietary modifications, vitamin supplementation, and medications to manage symptoms and reduce toxic buildup. Early detection and intervention are crucial for improving outcomes in affected individuals.