hyperinsulinism-hyperammonemia syndrome
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
HI/HA syndrome
|
| gptkbp:associatedWith |
elevated plasma ammonia
inappropriate insulin secretion |
| gptkbp:characterizedBy |
hyperammonemia
hyperinsulinism |
| gptkbp:diagnosedBy |
genetic testing
blood glucose measurement blood ammonia measurement |
| gptkbp:firstDescribed |
1997
|
| https://www.w3.org/2000/01/rdf-schema#label |
hyperinsulinism-hyperammonemia syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
GLUD1 gene
|
| gptkbp:OMIM |
606762
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
seizures lethargy developmental delay |
| gptkbp:treatment |
gptkb:diazoxide
dietary management |
| gptkbp:bfsParent |
gptkb:GLUD1
|
| gptkbp:bfsLayer |
7
|