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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
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 |
