carnitine-acylcarnitine translocase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder |
| gptkbp:affects |
mitochondrial fatty acid oxidation
|
| gptkbp:diagnosedBy |
genetic testing
acylcarnitine profile |
| gptkbp:hasOrphanetID |
ORPHA:319
|
| https://www.w3.org/2000/01/rdf-schema#label |
carnitine-acylcarnitine translocase deficiency
|
| gptkbp:ICD-10_code |
E71.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
SLC25A20 gene
|
| gptkbp:OMIM |
212138
|
| gptkbp:onset |
neonatal
infantile |
| gptkbp:symptom |
muscle weakness
cardiomyopathy liver dysfunction hypoketotic hypoglycemia |
| gptkbp:treatment |
dietary management
avoidance of fasting medium-chain triglyceride supplementation |
| gptkbp:bfsParent |
gptkb:CACT
gptkb:SLC25A20 |
| gptkbp:bfsLayer |
8
|