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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 |
|---|---|---|---|
| 3074 | HEXB | hexosaminidase subunit beta | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3291 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase | |
| 3945 | LDHB | lactate dehydrogenase B | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5321 | PLA2G4A | phospholipase A2 group IVA |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q4G176 | Malonate--CoA ligase ACSF3, mitochondrial | |
| Q6NVY1 | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q9Y259 | Choline/ethanolamine kinase |
