hyperinsulinism due to UCP2 deficiency
ORPHA: 276556
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hyperinsulinism due to UCP2 deficiency, sourced from HPO and Orphanet clinical annotations.
Hyperinsulinemic hypoglycemiaHypoketotic hypoglycemiaRecurrent hypoglycemiaReactive hypoglycemiaIncreased C-peptide levelExcessive insulin response to glucagon testDecreased circulating free fatty acid levelAgitationPallorEpisodic hyperhidrosisLarge for gestational ageTachycardiaPalpitationsDrowsinessNeurodevelopmental abnormalityLethargySyncopeHypoglycemic comaHypertrophic cardiomyopathyStatus epilepticusHypoglycemic seizuresHepatomegalyPolyphagiaLoss of consciousnessFeeding difficultiesDiffuse pancreatic islet hyperplasia
Classification & Codes
Orphanet Code
ORPHA:276556hyperinsulinism due to UCP2 deficiency
| Orphanet | ORPHA:276556 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO