Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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 | |
| 4720 | NDUFS2 | NADH:ubiquinone oxidoreductase core subunit S2 | |
| 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 |
Related Glycoprotein
