Table 1 Clinical features and gene mutation of GSD IIIa patients
Patient 1 | Patient 2 | Patient 3 | Patient 4 | |||||
|---|---|---|---|---|---|---|---|---|
first visit | last follow-up | first visit | last follow-up | first visit | last follow-up | first visit | last follow-up | |
Gender | male | male | female | male | ||||
Onset age (years) | 1 | / | 2 | / | 1 | / | 1 | / |
Onset symptoms | abdominal distension | / | abdominal distension | / | abdominal distension | / | abdominal distension | / |
Age (years) | 16 | 18 | 32 | 34 | 22 | 24 | 14 | 16 |
Height(cm) | 167 | 169 | 170 | 170 | 164 | 164 | 147 | ND |
Weight(kg) | 60 | 62 | 75 | 75 | 77 | 80 | 46.5 | ND |
Complains | weakness, syncope, headache, irritability, | weakness relief | weakness | weakness relief | weakness | weakness relief | weakness | weakness relief |
Myopathy | + | +/− | + | +/− | + | +/− | + | +/− |
Hepatomegaly (below the costal margin>2 cm) | + | – | + | – | + | – | + | – |
Cardiomypathy (LVPW>3.7 mm) | – | – | LVH | LVH (stationary) | LVH | LVH (stationary) | LVH | ND |
Electrocardiography | – | ND | – | ND | – | ND | – | ND |
Hypoglycemia | + | – | – | – | – | – | – | ND |
Electromyogram | Mup in proximal limbs | ND | Mup in proximal limbs | ND | Mup in proximal limbs | ND | Mup in proximal limbs | ND |
Muscle MRI | + | ND | + | ND | + | ND | + | ND |
NCS | – | ND | – | ND | – | ND | – | ND |
Creatine kinase (U/L)(24–195) | 4000 | 1470 | 1126 | 2377 | 1190 | ND | 2785 | ND |
Alanine aminotransferase (U/L)(0–50) | 199 | 244 | 103 | 104 | 78 | 32 | 108 | ND |
Aspartate aminotransferase (U/L)(0–50) | 202 | 294 | 81 | 116 | 75 | 41 | 196 | ND |
Gamma-glutamyl transpeptidase(U/L)(16–73) | 120 | 202 | 27 | 28 | 25 | ND | 70 | ND |
Lactate (mmol/l) (0.1–2.7) | 2.5 | ND | 2.3 | ND | 1.8 | ND | 1.2 | ND |
Uric acid (mmol/l) (208–428) | 346 | 332 | 359 | 581 | 293 | ND | 300 | ND |
Cholesterol (mmol/L) (3.55–5.20) | 4.47 | 5.1 | 8.61 | 7.14 | 5.99 | 5.06 | 4.0 | ND |
Triglyceride (mmol/L) (0.45–1.81) | 1.19 | 1.6 | 4.43 | 5.45 | 3.09 | 3.41 | 0.49 | ND |
Fasting blood glucose (mmol/L)(3.89–6.11) | 2.3 | 3.8 | 5.0 | 4.18 | 4.5 | 6.23 | 4.41 | ND |
Urine ketone body | + | – | – | – | + | – | + | – |
AGL mutation | AGL c.206dupA (homozygous) | AGL c.1735 + 1G > T (homozygous) | AGL c.1735 + 1G > T; c.2590 G>T (heterozygous) | AGL c.1735 + 1G > T; c.2590 G>T (heterozygous) | ||||