Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder |
| gptkbp:affects |
amino acid metabolism
|
| gptkbp:causedBy |
deficiency of isovaleryl-CoA dehydrogenase
|
| gptkbp:diagnosedBy |
genetic testing
urine organic acid analysis |
| gptkbp:firstDescribed |
1966
|
| https://www.w3.org/2000/01/rdf-schema#label |
isovaleric acidemia
|
| gptkbp:ICD-10_code |
E71.110
|
| gptkbp:inheritsFrom |
autosomal recessive
|
| gptkbp:OMIM |
243500
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
vomiting
seizures lethargy developmental delay distinctive odor of sweaty feet |
| gptkbp:treatment |
carnitine supplementation
dietary protein restriction glycine supplementation |
| gptkbp:bfsParent |
gptkb:isovaleric_acid
|
| gptkbp:bfsLayer |
7
|