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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 |
|---|---|---|---|
| 33 | ACADL | acyl-CoA dehydrogenase long chain | |
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 38 | ACAT1 | acetyl-CoA acetyltransferase 1 | |
| 275 | AMT | aminomethyltransferase | |
| 847 | CAT | catalase | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1559 | CYP2C9 | cytochrome P450 family 2 subfamily C member 9 | |
| 1738 | DLD | dihydrolipoamide dehydrogenase |
Related Glycoprotein
