autosomal dominant hyperinsulinism due to SUR1 deficiency
ORPHA: 2765751 Treatment Available
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| diazoxide Orphan | Oral suspension, 50mg/mL | FDA Approved, EMA Approved | 6 | 14d |
Clinical Presentation
Signs and symptoms associated with autosomal dominant hyperinsulinism due to SUR1 deficiency, sourced from HPO and Orphanet clinical annotations.
Hyperinsulinemic hypoglycemiaHyperinsulinemiaHypoketotic hypoglycemiaFasting hypoglycemiaIncreased C-peptide levelExcessive insulin response to glucagon testDecreased circulating free fatty acid levelAgitationPallorEpisodic hyperhidrosisLarge for gestational ageTachycardiaPalpitationsHypoglycemic seizuresDrowsinessNeurodevelopmental abnormalityFocal pancreatic islet hyperplasiaDiffuse pancreatic islet hyperplasiaLethargySyncopeHypoglycemic comaHypertrophic cardiomyopathyStatus epilepticusHepatomegalyPolyphagiaLoss of consciousnessFeeding difficultiesType I diabetes mellitus
Classification & Codes
Orphanet Code
ORPHA:276575autosomal dominant hyperinsulinism due to SUR1 deficiency
| Orphanet | ORPHA:276575 |
| Treatments | 1 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO