medium-chain acyl-CoA dehydrogenase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
inborn error of metabolism
fatty acid oxidation disorder |
| gptkbp:abbreviation |
gptkb:MCADD
|
| gptkbp:affects |
fatty acid metabolism
|
| gptkbp:diagnosedBy |
genetic testing
newborn screening acylcarnitine profile |
| gptkbp:frequency |
1 in 10,000 to 1 in 20,000 births
|
| https://www.w3.org/2000/01/rdf-schema#label |
medium-chain acyl-CoA dehydrogenase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ACADM_gene
|
| gptkbp:namedAfter |
medium-chain acyl-CoA dehydrogenase enzyme
|
| gptkbp:onset |
infancy
|
| gptkbp:symptom |
gptkb:hypoglycemia
vomiting seizures lethargy sudden death |
| gptkbp:treatment |
avoid fasting
high-carbohydrate diet intravenous glucose during illness |
| gptkbp:bfsParent |
gptkb:Medium-chain_acyl-CoA_dehydrogenase
|
| gptkbp:bfsLayer |
6
|