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urea cycle disorder
Summary
- Synonym
-
- disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
- disorder of urea cycle metabolism
- urea cycle defect
- Definition
- An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
- Super Class
- amino acid metabolic disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2645 | GCK | glucokinase | |
| 2653 | GCSH | glycine cleavage system protein H | |
| 2752 | GLUL | glutamate-ammonia ligase | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 3155 | HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 4967 | OGDH | oxoglutarate dehydrogenase | |
| 5091 | PC | pyruvate carboxylase |
Related Glycoprotein
