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GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
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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
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Guidelines
MIRAGE
medium chain acyl-CoA dehydrogenase deficiency
Summary
- Definition
- A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.
- Super Class
- lipid metabolism disorder
External Links
- Disease Ontology
- DOID:0080153
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11310 | Medium-chain specific acyl-CoA dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002875 | Exertional dyspnea |
| HP:0003701 | Proximal muscle weakness |
| HP:0001943 | Hypoglycemia |
| HP:0007185 | Loss of consciousness |
| HP:0002014 | Diarrhea |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0011936 | Decreased plasma total carnitine |
