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Table 1 Patients characteristics before starting ketogenic diet

From: Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations

 

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

  1. DZX diazoxide, OCT octreotide, NFD nifedipine, SRL sirolimus, IQ intelligence quotient, ID intellectual disability