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amino acid metabolic disorder
Summary
- Synonym
-
- inborn errors of amino acid metabolism
- Definition
- An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
- Super Class
- inherited metabolic disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6472 | SHMT2 | serine hydroxymethyltransferase 2 | |
| 6897 | TARS1 | threonyl-tRNA synthetase 1 | |
| 8564 | KMO | kynurenine 3-monooxygenase | |
| 11112 | HIBADH | 3-hydroxyisobutyrate dehydrogenase | |
| 26227 | PHGDH | phosphoglycerate dehydrogenase | |
| 26275 | HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | |
| 54511 | HMGCLL1 | 3-hydroxy-3-methylglutaryl-CoA lyase like 1 | |
| 80222 | TARS2 | threonyl-tRNA synthetase 2, mitochondrial | |
| 123283 | TARS3 | threonyl-tRNA synthetase 3 |
