Argininosuccinic Aciduria
Argininosuccinic Aciduria is a rare genetic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is essential for the urea cycle, which helps remove ammonia from the body. When this enzyme is lacking, ammonia can build up, leading to serious health issues.
Symptoms of Argininosuccinic Aciduria may include developmental delays, seizures, and liver problems. Early diagnosis and treatment are crucial to manage the condition and prevent complications. Treatment often involves a special diet and medications to help reduce ammonia levels in the blood.