Ornithine carbamoyltransferase deficiency disease, also known as ornithine transcarbamylase deficiency (OTC), is a rare genetic disorder that affects the metabolism of nitrogen in the body. It is an X-linked disorder, meaning it primarily affects males.
Ornithine carbamoyltransferase (OTC) is an enzyme involved in the breakdown and elimination of nitrogen from the body. In cases of OTC deficiency disease, there is a mutation or absence of the OTC gene, leading to insufficient levels or total absence of the OTC enzyme. As a result, toxic levels of ammonia accumulate in the blood and body tissues.
The symptoms of OTC deficiency disease typically become evident in early infancy. Affected infants may experience poor feeding, lethargy, vomiting, seizures, and an unusual odor in their urine. As ammonia builds up in the body, it can cause severe neurological damage and, in severe cases, coma and death.
The diagnosis of OTC deficiency disease involves blood and urine tests to measure ammonia levels and assess the presence of metabolic abnormalities. Genetic testing is also employed to confirm the mutation in the OTC gene.
The treatment of OTC deficiency disease typically involves a combination of dietary restrictions and medications. A low-protein diet, supplemented with special formulas, helps to minimize the production of ammonia. Medications such as sodium phenylbutyrate or sodium benzoate are prescribed to help the body eliminate excess ammonia. In severe cases, hemodialysis or liver transplantation may be necessary.
Early diagnosis and prompt treatment are crucial for the management of OTC deficiency disease in order to prevent episodes of hyperammonemia and minimize the risk of neurological damage. Regular monitoring and adherence to the recommended treatment plan can significantly improve the quality of
