NAGS : N-acetylglutamate synthase
Description
The NAGS gene provides instructions for making the enzyme N-acetylglutamate synthase (NAGS). This enzyme plays a crucial role in the urea cycle, a metabolic pathway that eliminates excess nitrogen from the body in the form of urea. NAGS catalyzes the synthesis of N-acetylglutamate, a vital cofactor for carbamoyl phosphate synthetase I (CPS I), the first enzyme of the urea cycle. Proper functioning of NAGS is essential for maintaining nitrogen balance and preventing the accumulation of ammonia in the blood, which can lead to serious health complications.
Associated Diseases
- NAGS Deficiency: A rare genetic disorder caused by mutations in the NAGS gene, leading to hyperammonemia and neurological problems.
- Citrullinemia: A urea cycle disorder characterized by high levels of citrulline in the blood, often associated with NAGS deficiency.
Did you know?
NAGS deficiency is often diagnosed in newborns who experience feeding difficulties, lethargy, and seizures.
