Table 1.
The various deficiencies of urea cycle disorders
adapted from Waisbren [3]
| Cofactor |
| N-Acetylglutamate synthase deficiency (NAGSD) |
| Enzymes |
| Carbamyl phosphate synthetase 1 deficiency (CPS1D) |
| Ornithine transcarbamylase deficiency (OTCD) |
| Argininosuccinate synthetase deficiency (ASSD) (citrullinemia) |
| Argininosuccinate lyase deficiency (ASLD) (Argininosuccinic aciduria) |
| Arginase deficiency (ARGD, argininemia) |
| Transporter |
| Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (or mitochondrial ornithine transporter 1 deficiency (ORNT1D) |
| Citrullinemia type II (mitochondrial aspartate/glutamate carrier deficiency (CITRIN) |