NAGS Deficiency Research
N-acetylglutamate Synthase (NAGS) Deficiency
The enzyme NAGS makes a molecule called N-acetylglutamate, which is essential for the functioning of the first urea cycle enzyme, CPS1. Patients with complete NAGS deficiency develop high ammonia levels in the blood (hyperammonemia) soon after birth. Patients who are successfully rescued from high ammonia are at risk for further episodes of hyperammonemia. Patients with partial NAGS deficiency (milder type of NAGS) can have symptoms that appear at any time of life with triggering events such as an infection or other stress. NAGS deficiency is typically diagnosed by genetic testing. NAGS deficiency is the only UCD in which the hyperammonemia can be completely reversed by a medication called Carglumic acid.