Hyperinsulinism-hyperammonemia syndrome
Hyperinsulinism-hyperammonemia syndrome
Definition
Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.
Also known as GDH hyperinsulinism, GLUD1 hyperinsulinism, glutamate dehydrogenase 1 hyperinsulinism, hi/HA syndrome, hyperinsulinemic hypoglycemia, familial, type 6, hyperinsulinism-hyperammonemia syndrome, hyperinsulinism/hyperammonemia syndrome — per MONDO
Also identified as
- DOID 0070217 per MONDO
- MESH C538375 per MONDO
- NCIT C131832 per MONDO
- OMIM 606762 per MONDO
- Orphanet 35878 per MONDO
- UMLS C1847555 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Alimentary part of gastrointestinal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Alimentary part of gastrointestinal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Endocrine gland | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Pancreas | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Pancreas | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |