hyperinsulinism due to glucokinase deficiency
ORPHA: 79299
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with hyperinsulinism due to glucokinase deficiency, sourced from HPO and Orphanet clinical annotations.
Hyperinsulinemic hypoglycemiaHypoketotic hypoglycemiaRecurrent hypoglycemiaFasting hyperinsulinemiaAbnormal circulating C-peptide concentrationSeizureMuscle weaknessHand tremorFatigueComaType II diabetes mellitusAbnormality of the autonomic nervous systemAbnormal nervous system physiology
Classification & Codes
Orphanet Code
ORPHA:79299hyperinsulinism due to glucokinase deficiency
| Orphanet | ORPHA:79299 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO