Argininosuccinate Acidemia (ASA)

 

Argininosuccinic aciduria (ASA) is an inborn error of metabolism, an inherited condition in which an enzyme, argininosuccinate lyase, in the body is either missing or not working well. ASA is considered both an amino acid condition and a urea cycle disorder. In ASA, the body's system for removing nitrogen, a waste-product from the breakdown of proteins, is not working well. Harmful substances, including ammonia, build up in the body. Ammonia in high amounts is toxic to the brain. Symptoms of ASA can vary and may include poor feeding, vomiting, developmental delay, liver problems, coarse and brittle hair that breaks easily, high blood pressure, extreme tiredness/lethargy, breathing problems, low body temperature (hypothermia), seizures, swelling of the brain, coma and/or other potential signs and symptoms. ASA can be a life-threatening condition. Illnesses or infections, going too long without food, or eating large amounts of protein are some examples of circumstances that could also trigger symptoms of ASA. Management often includes a special diet, medication/supplements, special precautions, emergency management recommendations or other treatment. Early detection and intervention can benefit children with this condition. Support groups are available to help connect families living with ASA with others who have experience or expertise with this condition.

To learn more about Argininosuccinic Aciduria visit Screening, Technology, and Research in Genetics (STAR-G): Argininosuccinic Acid Lyase Deficiency and Baby's First Test: Argininosuccinic Aciduria. 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.