What is Argininosuccinic Aciduria

Argininosuccinic Aciduria (ASA) is a rare genetic disorder that affects the urea cycle, a process responsible for removing toxic ammonia from the body. It is an autosomal recessive disorder, meaning that both parents must carry a mutated gene for their child to be affected.

Individuals with ASA lack the enzyme argininosuccinate lyase, which is essential for the breakdown of argininosuccinic acid. As a result, toxic levels of ammonia accumulate in the blood, leading to various symptoms such as poor growth, developmental delays, intellectual disability, liver dysfunction, seizures, and behavioral problems.

Early diagnosis and treatment are crucial in managing ASA. Treatment typically involves a low-protein diet, supplemented with specific amino acids, and medications to reduce ammonia levels. In severe cases, dialysis or liver transplantation may be necessary.

Genetic counseling is recommended for families with a history of ASA to understand the risk of passing on the condition to future children. Ongoing medical monitoring and support from healthcare professionals can help individuals with ASA lead fulfilling lives.