long-chain fatty acid oxidation disorders
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
|
| gptkbp:affects |
fatty acid metabolism
|
| gptkbp:cause |
gptkb:hypoglycemia
muscle weakness cardiomyopathy liver dysfunction rhabdomyolysis |
| gptkbp:diagnosedBy |
genetic testing
acylcarnitine profile |
| gptkbp:firstDescribed |
20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
long-chain fatty acid oxidation disorders
|
| gptkbp:includes |
gptkb:carnitine-acylcarnitine_translocase_deficiency
CPT II deficiency LCHAD deficiency VLCAD deficiency |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:involves |
mitochondrial beta-oxidation
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
dietary management
avoidance of fasting medium-chain triglyceride supplementation |
| gptkbp:bfsParent |
gptkb:Dojolvi
|
| gptkbp:bfsLayer |
8
|