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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001999 | Abnormal facial shape |
| HP:0000252 | Microcephaly |
| HP:0002098 | Respiratory distress |
| HP:0001276 | Hypertonia |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0000708 | Atypical behavior |
| HP:0001511 | Intrauterine growth retardation |
| HP:0012734 | Ketotic hypoglycemia |
| HP:0001397 | Hepatic steatosis |
| HP:0003219 | Ethylmalonic aciduria |
