multiple acyl-CoA dehydrogenase deficiency
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
inborn error of metabolism |
| gptkbp:affects |
amino acid metabolism
fatty acid oxidation choline metabolism |
| gptkbp:alsoKnownAs |
gptkb:MADD
glutaric acidemia type II |
| gptkbp:canBeLateOnset |
true
|
| gptkbp:canBeNeonatalOnset |
true
|
| gptkbp:diagnosedBy |
genetic testing
urine organic acid analysis acylcarnitine profile |
| gptkbp:firstDescribed |
1976
|
| gptkbp:hasOrphanetID |
ORPHA:42
|
| https://www.w3.org/2000/01/rdf-schema#label |
multiple acyl-CoA dehydrogenase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ETFA gene
ETFB gene ETFDH gene |
| gptkbp:OMIM |
231680
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
vomiting muscle weakness lethargy metabolic acidosis hepatomegaly |
| gptkbp:treatment |
dietary management
riboflavin carnitine supplementation |
| gptkbp:bfsParent |
gptkb:SLC25A32
gptkb:electron_transfer_flavoprotein |
| gptkbp:bfsLayer |
8
|