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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