| Patient 1 | Patient 2 | Patient 3 |
---|---|---|---|
Age at diagnosis (year) | 3 | 54/12 | 3 |
Age at first observation (year) | 98/12 | 54/12 | 66/12 |
GCK mutation | p.Val455Met | p.Trp99Arg | p.Trp99Arg |
HI therapy | DZX, OCT, NFD | DZX, OCT, SRL | DZX, OCT, SRL |
Glucose/kg/min (mg) | 5 | 20 | 8 |
Outcome | Symptomatic recurrent hypoglycemia Epilepsy Borderline IQ | Symptomatic recurrent hypoglycemia Vomiting Borderline IQ | Symptomatic recurrent hypoglycemia Epilepsy Mild ID |
Anticonvulsivant therapy | Ethosuximide Valproate | . | Ethosuximide Clonazepam |