Argininosuccinic Aciduria synonyms
What other names are the Argininosuccinic Aciduria known by? Synonyms and other terms with which Argininosuccinic Aciduria is known.
Argininosuccinic Aciduria, also known as ASA, is a rare genetic disorder that affects the metabolism of the amino acid arginine. This condition is caused by a deficiency of the enzyme argininosuccinate lyase, which is responsible for breaking down argininosuccinic acid into arginine and fumarate.
Individuals with Argininosuccinic Aciduria experience a buildup of argininosuccinic acid in their blood and tissues, leading to a variety of symptoms and health complications. The severity of the condition can vary widely, ranging from mild to severe forms.
Common synonyms for Argininosuccinic Aciduria include:
- Argininosuccinate lyase deficiency
- Argininosuccinic acid lyase deficiency
- Argininosuccinase deficiency
- ASA deficiency
- ASALD
- Argininosuccinic aciduria type I
These terms are often used interchangeably to refer to the same condition, highlighting the enzyme deficiency and the resulting accumulation of argininosuccinic acid.
Argininosuccinic Aciduria can present with various symptoms, including intellectual disability, developmental delay, seizures, liver dysfunction, vomiting, and ammonia buildup in the blood (hyperammonemia). If left untreated, it can lead to life-threatening complications such as coma and brain damage.
Early diagnosis and management of Argininosuccinic Aciduria are crucial. Treatment typically involves a low-protein diet, special medical formulas, and the use of medications to help remove excess ammonia from the body. In some cases, liver transplantation may be necessary.
Research and advancements in genetic testing have improved the ability to diagnose Argininosuccinic Aciduria early, allowing for prompt intervention and improved outcomes for affected individuals.
