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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 |
|---|---|---|---|
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2584 | GALK1 | galactokinase 1 | |
| 2592 | GALT | galactose-1-phosphate uridylyltransferase | |
| 2639 | GCDH | glutaryl-CoA dehydrogenase | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2819 | GPD1 | glycerol-3-phosphate dehydrogenase 1 | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3073 | HEXA | hexosaminidase subunit alpha |
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 |
