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Table 2 Comparison of clinical and biochemical indexes of 3 patients with GSD type Ib before and after treatment

From: Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

 

Patient 1

Patient 2

Patient 3

Clinical diagnosis

Genetic diagnosis

Last visit

Clinical diagnosis

Genetic diagnosis

Last visit

Clinical diagnosis

Genetic diagnosis

Last visit

Age (years)

1.25

12.33

15

3.5

13

14

3

10.5

11.75

Height (cm)

72

141.8

150

89

136

141.6

90

137.7

148.9

Height (SDS)

 − 2.26

 − 2.05

 − 1.79

 − 2.97

 − 3.02

 − 3.38

 − 1.48

 − 0.86

 − 0.11

Growth velocity (cm/year)

6.30

3.07

4.95

5.6

6.36

8.96

Weight (Kg)

9

47.5

57.5

13

28.5

34

15

33.1

50

Weight (P)

10–25

50–75

75–90

10–25

 < 3

 < 3

50–75

25–50

90–97

BMI(kg/m2)

18.9

23.6

25.6

16.4

15.4

17.0

18.5

17.5

22.6

Sexual development

         

 Stages of breast development

B1

B3

B4

B1

B2

B3

 Testicular volume (ml)

1

3

6

 Bone age (years)

13

Complete blood count

         

 ANC (× 109/L)

1.07

0.94

0.28

0.95

0.46

0.3

0.82

0.41

0.22

Liver function

         

 ALT (U/L)

75

10

25

50

37

30

37

28

19

 AST (U/L)

103

12

17

46

28

20

54

30

18

Blood lipids

         

 TG (mmol/L)

8.84

3.12

2.03

5.53

3.56

2.1

3.92

4.89

2.91

 HDL (mmol/L)

1.13

0.83

0.73

0.91

0.75

0.87

1.28

0.86

1.01

Glucose metabolism parameters

         

 Fasting glucose (mmol/L)

3.7

2.79

3.1

3.8

2.49

4.63

3.48

3.64

6.65

 Lactic acid (mmol/L)

8.78

6.42

6.89

10.75

11.41

3.98

9.61

4.09

4.05

 Pyruvic acid (umol/L)

52.8

269.1

263.4

284.7

509.3

135.2

297.4

297.4

168.1

 Uric acid (μmol/L)

281.9

674

419

499

537

366

519

522

278

Blood gases

         

 PH

7.413

7.376

7.363

7.312

7.312

7.346

7.38

7.38

7.341

 BE

 − 8.5

 − 5.8

 − 6.4

 − 10.9

 − 10.9

 − 1.1

 − 1.1

 − 1.1

 − 2.8

Echocardiography

         

 Liver size (cm)

4

8.8

2

5

8

4.5

9

8

7

 Kidney

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

  1. Abbreviation list: ANC, Absolute neutrophil count; ALT, alanine aminotransferase; AST, aspartate aminotransferase; TG, triglyceride; HDL, high-density lipoprotein; BE, base excess;
  2. Normal range: ANC > 1.5 × 109/L; ALT,4-41U/L; AST,4-40U/L; TG,0.05–1.7 mmol/L; HDL 1.10–1.90 mmol/L; Uric acid 202.3–416.5 μmol/L; Fasting glucose 4.11–6.05 mmol/L; Lactic acid 0.50–2.20 mmol/L; Pyruvic acid 20–100 umol/L; PH 7.35–7.45; BE − 3 ~ 3