Argininemia (ARG) is an inborn error of metabolism, an inherited condition in which an enzyme, arginase 1, in the body is either missing or not working well. Argininemia is considered both an amino acid condition and a urea cycle disorder. People affected with argininemia are unable to break down the amino acid arginine (a part of protein) and arginine builds up in the body. Another substance called ammonia can also build up in the blood. Symptoms of argininemia vary and may include poor growth, liver problems, changes in muscle tone, seizures, developmental delay, loss of developmental milestones and/or other potential signs and symptoms. Support groups are available to help connect families living with argininemia with others who have experience or expertise with this condition.
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. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.