Table 1 Demographic and clinical information of 11 patients with FBS

Demographic information

Male/female (n)

7/4

Age at onset (d/y) (n = 11)

1.3 y (3 d∼2.3 y)

Age at diagnosis (y) (n = 11)

2.2 (1.1∼3.4)

Follow-up duration (y) (n = 9)

6.7 (1.4∼15.2)

Clinical information

Initial symptoms (n)

Hepatomegaly

10/11

Short stature

10/11

Hypophosphataemic rickets

7/11

Biochemical parameters (n = 9)

Pre-treatment

Post-treatment

Glucose (mmol/L) *

2.0 ± 0.7

4.5 ± 0.7

ALT (U/L) *

98.3 ± 56.8

30.4 ± 8.7

AST (U/L) *

121.0 (66.0, 276.5)

34.0 (30.0, 86.0)

GGT (U/L)

55.0 (39.5, 145.5)

43.0 (27.5, 168.5)

TC (mmol/L)

5.1 ± 1.2

5.2 ± 1.0

TG (mmol/L) *

3.6 ± 1.8

1.4 ± 0.4

UA SDS

-3.1 ± 0.4

-3.2 ± 0.5

Lactate (mmol/L)

1.8 ± 0.7

1.5 ± 0.6

pH

7.34 ± 0.06

7.32 ± 0.06

HCO₃⁻ (mmol/L) *

14.6 (12.4, 17.0)

21.4 (14.7, 23.2)

BE

-10.3 ± 3.0

-7.4 ± 5.6

AKP SDS *

9.2 (6.4, 10.5)

3.6 (1.6, 6.3)

Phosphorus SDS

-6.4 ± 1.7

-5.6 ± 1.0

Calcium (mmol/L)

2.26 (2.25, 2.51)

2.40 (2.29, 2.57)