Argininosuccinate Synthase Deficiency Disease, also known as argininosuccinic aciduria (ASA), is a rare inherited metabolic disorder characterized by the impaired function of the enzyme argininosuccinate synthase. This enzyme plays a crucial role in the urea cycle, which helps eliminate toxic ammonia from the body.
Individuals with Argininosuccinate Synthase Deficiency Disease lack the ability to effectively convert argininosuccinic acid into the amino acid arginine, leading to a buildup of ammonia in the blood and tissues. This excess ammonia can be toxic to the brain and other organs, causing a wide range of symptoms and complications.
The disease typically presents in infancy or early childhood, with affected individuals experiencing episodes of vomiting, lethargy, poor appetite, and an overall failure to thrive. If left untreated, the condition can progress rapidly, leading to seizures, coma, and even death.
Diagnosis of argininosuccinic aciduria is usually established through clinical evaluation, blood tests, and genetic analysis, which identifies mutations in the ARG1 gene responsible for encoding argininosuccinate synthase.
The main treatment for Argininosuccinate Synthase Deficiency Disease involves a strict low-protein diet, which helps minimize the production of ammonia. Additionally, individuals may require supplements of essential amino acids and medications to further manage ammonia levels. In some cases, liver transplantation may be necessary to provide a source of healthy enzymes.
Early diagnosis and effective management of the condition are essential to prevent complications and improve long-term outcomes for affected individuals. Close monitoring by a multidisciplinary medical team is typically required throughout an individual's life.
