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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0011675 | Arrhythmia |
| HP:0001397 | Hepatic steatosis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001252 | Hypotonia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003738 | Exercise-induced myalgia |
| HP:0001946 | Ketosis |
| HP:0000750 | Delayed speech and language development |
| HP:0003202 | Skeletal muscle atrophy |
