Argininemia

 

Argininemia (ARG) is a condition that causes harmful amounts of arginine and ammonia to build up in the body. It is considered an amino acid condition because people affected with ARG are unable to break down an amino acid known as arginine. Arginine is a small molecule that makes up proteins. ARG is also called a urea cycle condition. This name is used to describe conditions that cause ammonia to accumulate in the body. If untreated, ARG can cause muscle problems and developmental delay. However, if the condition is detected early and proper treatment is initiated, individuals with ARG can often lead healthy lives.

This condition is also known as: arginase deficiency, ARG1 deficiency, arginase deficiency disease, hyperargininemia.

For more information about Argininemia visit Screening, Technology, and Research in Genetics (STAR-G): Argininemia and Baby's First Test: Argininemia. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Pediatric Metabolic Providers for a listing of medical specialists and clinic contact information.