Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
|
| gptkbp:abbreviation |
gptkb:MCADD
|
| gptkbp:affects |
fatty acid oxidation
|
| gptkbp:causedBy |
mutation in ACADM gene
|
| gptkbp:complication |
sudden infant death syndrome
coma liver dysfunction |
| 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 births
|
| gptkbp:fullName |
Medium-chain acyl-CoA dehydrogenase deficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
MCAD deficiency
|
| gptkbp:ICD-10_code |
E71.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
gptkb:D020152
|
| gptkbp:OMIM |
201450
|
| gptkbp:onset |
infancy
early childhood |
| gptkbp:prevalence |
more common in Northern European descent
|
| gptkbp:symptom |
gptkb:hypoglycemia
vomiting seizures lethargy sudden death |
| gptkbp:treatment |
avoid fasting
high-carbohydrate diet emergency glucose administration |
| gptkbp:bfsParent |
gptkb:ACADM
|
| gptkbp:bfsLayer |
7
|