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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 |
|---|---|---|---|
| 5373 | PMM2 | phosphomannomutase 2 | |
| 7086 | TKT | transketolase | |
| 7167 | TPI1 | triosephosphate isomerase 1 | |
| 7941 | PLA2G7 | phospholipase A2 group VII | |
| 8658 | TNKS | tankyrase | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 23417 | MLYCD | malonyl-CoA decarboxylase | |
| 26275 | HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | |
| 51179 | HAO2 | hydroxyacid oxidase 2 | |
| 54363 | HAO1 | hydroxyacid oxidase 1 |
Related Glycoprotein
