Table 1 Demographic and clinical characteristics and genotypes of 54 patients with GSD Ia

Males/Females

33:21

Age at diagnosis

9.1 ± 10.7 (5 months to 42 years)

Age at last visit

16.8 ± 13.1 (13 months to 43 years)

Familial cases

7/47 families (14.9%)

 Random glucose (mg/dL, RR: 70–120)

79.4 ± 27.7

 Lactate (mmol/L, RR: 0.8–2.1)

26.1 ± 31.9

 Uric acid (mg/dL, RR: 3.2–7.4)

8.0 ± 2.7

 Hemoglobin (mg/dL, RR: 13–16)

10.8 ± 2.0

 Cholesterol (mg/dL, RR: 125–220)

230.4 ± 86.2

 Triglycerides (mg/dL, RR: 45–150)

649.7 ± 467.1

 Height (standard deviation score)

−2.26 ± 2.03

 c.648G > T + c.648G > T

34/47 families (72.3%)

 c.648G > T + p.G122D

4/47 families (8.5%)

 c.648G > T + p.G222R

3/47 families (6.4%)

 c.648G > T + p.Y128*

2/47 families (4.3%)

 c.648G > T + p.S326P

1/47 families (2.1%)

 c.648G > T + p.T255A

1/47 families (2.1%)

 c.648G > T + p.F51S

1/47 families (2.1%)

 c.648G > T + p.R83H

1/47 families (2.1%)