Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
Medium-chain acyl-CoA dehydrogenase deficiency
|
| gptkbp:affects |
fatty acid metabolism
|
| gptkbp:causedBy |
mutation in ACADM gene
|
| gptkbp:diagnosedBy |
genetic testing
newborn screening acylcarnitine profile |
| gptkbp:enzymeDeficiency |
medium-chain acyl-CoA dehydrogenase
|
| gptkbp:firstDescribed |
1982
|
| gptkbp:frequency |
1 in 10,000 to 1 in 20,000 live births
|
| gptkbp:fullName |
Medium-chain acyl-CoA dehydrogenase deficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
MCADD
|
| gptkbp:ICD-10_code |
E71.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D018885
|
| gptkbp:OMIM |
201450
|
| gptkbp:prevalence |
Northern European populations
|
| gptkbp:riskFactor |
sudden infant death syndrome
|
| gptkbp:symptom |
gptkb:hypoglycemia
vomiting seizures lethargy sudden death |
| gptkbp:treatment |
high-carbohydrate diet
avoidance of fasting glucose supplementation |
| gptkbp:bfsParent |
gptkb:medium-chain_acyl-CoA_dehydrogenase_deficiency
|
| gptkbp:bfsLayer |
7
|