May 11, 2023 · Argininosuccinic aciduria is a rare genetic disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). This enzyme is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle.

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system.

What is argininosuccinic aciduria. Argininosuccinic aciduria is an inherited (genetic) condition that prevents the body from removing ammonia properly. Ammonia is a waste product made when the body breaks down proteins. The body removes ammonia in a process called the urea cycle.

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Explore symptoms, inheritance, genetics of this condition.

Mar 1, 2020 · Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Argininosuccinic aciduria – also known as argininosuccinase deficiency and argininocuccinate lyase deficiency (ALD) – is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia is toxic if the levels become too high.

Argininosuccinic aciduria is a rare genetic disorder. People with this disorder are deficient in or missing an enzyme called argininosuccinate lyase or ASL. This enzyme has a job. It is part of the urea cycle.

Argininosuccinic aciduria (ASA) is a rare genetic disorder affecting the urea cycle, the process responsible for removing ammonia from the bloodstream. This metabolic disorder can lead to the accumulation of toxic substances in the body, causing severe health issues.

ASA is caused by mutations in the ASL gene (7q11.21) that encodes the enzyme argininosuccinate lyase. This enzyme catalyzes the conversion of argininosuccinic acid into arginine and fumarate during the fourth step of the urea cycle.