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inherited metabolic disorder
Summary
- Synonym
-
- Inborn Errors of Metabolism
- Metabolic hereditary disorder
- inborn metabolism disorder
- Definition
- A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
- Super Class
- disease of metabolism genetic disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 590 | BCHE | butyrylcholinesterase | |
| 3291 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | |
| 3978 | LIG1 | DNA ligase 1 | |
| 4719 | NDUFS1 | NADH:ubiquinone oxidoreductase core subunit S1 | |
| 6584 | SLC22A5 | solute carrier family 22 member 5 | |
| 10243 | GPHN | gephyrin | |
| 60386 | SLC25A19 | solute carrier family 25 member 19 | |
| 326625 | MMAB | metabolism of cobalamin associated B |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12038 | Bche | butyrylcholinesterase | |
| 20520 | Slc22a5 | solute carrier family 22 (organic cation transporter), member 5 | |
| 56517 | Slc22a21 | solute carrier family 22 (organic cation transporter), member 21 | |
| 227197 | Ndufs1 | NADH:ubiquinone oxidoreductase core subunit S1 | |
| 268566 | Gphn | gephyrin |
