Cystathionine Disorders
Cystathionine disorders are a group of metabolic conditions that affect the body's ability to process certain amino acids, particularly cystathionine. These disorders often result from deficiencies in specific enzymes, leading to an accumulation of toxic substances in the body. Symptoms can vary widely, including developmental delays, neurological issues, and cardiovascular problems.
The most common cystathionine disorder is homocystinuria, which is caused by a deficiency in the enzyme that converts homocysteine to cystathionine. Early diagnosis and treatment are crucial to managing symptoms and preventing complications. Treatment may involve dietary changes, vitamin supplementation, and in some cases, medication.