Syndromic Hyperinsulinism-Hyperammonemia
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:alsoKnownAs |
HI/HA syndrome
|
| gptkbp:associatedWith |
epilepsy
learning disabilities |
| gptkbp:biochemicalFeature |
elevated insulin
elevated plasma ammonia |
| gptkbp:category |
inborn error of metabolism
|
| gptkbp:firstDescribed |
1997
|
| https://www.w3.org/2000/01/rdf-schema#label |
Syndromic Hyperinsulinism-Hyperammonemia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
GLUD1 gene
|
| gptkbp:OMIM |
606762
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
seizures developmental delay hyperammonemia |
| gptkbp:treatment |
gptkb:diazoxide
dietary management |
| gptkbp:bfsParent |
gptkb:SHS
|
| gptkbp:bfsLayer |
7
|