A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Citrin deficiency | MONDO:0016602 | 3 | |
| Citrullinemia type I | MONDO:0008988 | 2 | ASS1 |
| Arginase deficiency | MONDO:0008814 | ARG1 | |
| Argininosuccinic aciduria | MONDO:0008815 | ASL | |
| Carbamoyl phosphate synthetase I deficiency disease | MONDO:0009376 | CPS1 | |
| Hyperammonemia due to N-acetylglutamate synthase deficiency | MONDO:0009377 | NAGS | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | MONDO:0014332 | CA5A | |
| Hyperinsulinism-hyperammonemia syndrome | MONDO:0011717 | GLUD1 | |
| Ornithine carbamoyltransferase deficiency | MONDO:0010703 | OTC | |
| Ornithine translocase deficiency | MONDO:0009393 | SLC25A15 |
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