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
short chain acyl-CoA dehydrogenase deficiency
Summary
- Definition
- A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0080154
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07417 | Short-chain specific acyl-CoA dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001942 | Metabolic acidosis |
| HP:0001250 | Seizure |
| HP:0003219 | Ethylmalonic aciduria |
| HP:0001397 | Hepatic steatosis |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0001276 | Hypertonia |
| HP:0002098 | Respiratory distress |
| HP:0000708 | Atypical behavior |
| HP:0001511 | Intrauterine growth retardation |
| HP:0007256 | Abnormal pyramidal sign |
