Urea cycle disorder The six urea cycle disorders The six urea cycle disorders

| Location_ | Abb_ | Enzyme | Disorder | Measurements |
|---|---|---|---|---|
| Mitochondria | NAGS | N-Acetylglutamate synthetase | N-Acetylglutamate synthase deficiency | + Ammonia |
| Mitochondria | CPS1 | Carbamoyl phosphate synthetase I | Carbamoyl phosphate synthetase I deficiency | + Ammonia |
| Mitochondria | OTC | Ornithine transcarbamylase | Ornithine transcarbamylase deficiency | + Ornithine , + Uracil , + Orotic acid |
| Cytosol | ASS | Argininosuccinic acid synthetase | AS deficiency or citrullinemia | + Citrulline |
| Cytosol | ASL | Argininosuccinase acid lyase | AL deficiency or argininosuccinic aciduria (ASA) | + Citrulline , + Argininosuccinic acid |
| Cytosol | ARG | Arginase | Arginase deficiency or argininemia | + Arginine |