Argininosuccinic Acid Synthetase Deficiency Complete (also known as Argininosuccinic aciduria or ASL deficiency) is a rare genetic disorder that affects the metabolism of the amino acid arginine. It is an autosomal recessive disorder caused by mutations in the ASL gene, which is responsible for producing the enzyme argininosuccinate synthetase.
This deficiency results in the body's inability to convert the amino acid citrulline into argininosuccinate, leading to a buildup of toxic levels of ammonia in the bloodstream. As a consequence, affected individuals experience hyperammonemia, a condition characterized by elevated ammonia levels that can be life-threatening if left untreated.
Symptoms of Argininosuccinic Acid Synthetase Deficiency Complete typically appear in infancy, with signs such as poor feeding, vomiting, seizures, lethargy, and cognitive impairment. If not promptly diagnosed and managed, the condition can lead to serious complications including brain damage, intellectual disability, and even death.
Treatment for Argininosuccinic Acid Synthetase Deficiency Complete focuses on reducing ammonia levels in the blood. This often involves a specialized diet low in protein and supplemented with specific amino acids, as well as medications to enhance ammonia detoxification. In severe cases, hemodialysis or liver transplantation may be necessary.
Overall, Argininosuccinic Acid Synthetase Deficiency Complete is a rare and serious metabolic disorder characterized by the body's inability to break down arginine properly, leading to the accumulation of toxic ammonia. Early diagnosis and appropriate management are crucial for improving long-term outcomes and preventing life-threatening complications.
