Urea cycle disorder
The six urea cycle disorders
Columns: 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