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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 35 | ACADS | acyl-CoA dehydrogenase short chain | |
| 410 | ARSA | arylsulfatase A | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11310 | Medium-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| P15289 | Arylsulfatase A | |
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P50416 | Carnitine O-palmitoyltransferase 1, liver isoform | |
| Q9NRA2 | Sialin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003701 | Proximal muscle weakness |
| HP:0001943 | Hypoglycemia |
| HP:0007185 | Loss of consciousness |
| HP:0002014 | Diarrhea |
| HP:0001315 | Reduced tendon reflexes |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0011936 | Decreased plasma total carnitine |
| HP:0002240 | Hepatomegaly |
| HP:0001410 | Decreased liver function |
| HP:0003394 | Muscle spasm |
