※ PTMD 2.0 database Online Browse Options
Browse result for Congenital hyperammonemia
※ introduction Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to brain injury and death. It may be primary or secondary.
Ammonia is a substance that contains nitrogen. It is a product of the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine by the kidneys. The metabolic pathways that synthesize urea involve reactions that start in the mitochondria and then move into the cytosol. The process is known as the urea cycle, which comprises several enzymes acting in sequence. It is greatly exacerbated by common zinc deficiency, which raises ammonia levels further.
Reference
Wiki: Congenital hyperammonemia
Reference
Wiki: Congenital hyperammonemia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00902 | P31327 | 1373 | CPS1 | Carbamoyl-phosphate synthase [ammonia], mitochondrial | Homo sapiens |
