Table 1 Clinical and histologic features of patients with glycogen storage disease VI
Clinical data | Case 1 | Case 2 | Case 3a | Case 4 | Case 5 |
|---|---|---|---|---|---|
Sex | M | M | F | M | F |
Age of onset (years) | 2.0 | 1.5 | 2.5 | 1.8 | 1.7 |
Age of diagnosis (years) | 3.3 | 3.5 | 2.6 | 1.8 | 6.0 |
Presenting symptoms | Abdomen distention | Abdomen distention, Developmental delay | Abdomen distention, AST/ALT elevation | Abdomen distention | Abdomen distention |
AST/ALT (U/L)b | 203/324 | 216/362 | 387/458 | 279/179 | 133/117 |
Uric acid (mg/dL)b | 3.8 | 5.1 | 3.9 | 4.7 | 3.0 |
Cholesterol (mg/dL)b | 99 | 177 | 112 | 185 | 201 |
TG (mg/dL)b | 173 | 139 | 237 | 106 | 188 |
Lactic acid (mmol/L)b | 2.9 | 6.3 | 2 | 1.2 | 2.5 |
Glucose (mg/dL) (fasting)b | 75 | 82 | 50 | 59 | 74 |
Age at liver biopsy (years) | 3.3 | 3.5 | 2.5 | 1.8 | 2.8 |
Light microscope | Periportal and septal fibrosis | Periportal, perisinusoidal, and perivenular fibrosis | Periportal, perivenular, and pericellular fibrosis | Periportal fibrosis | Periportal fibrosis |
Electron microscope | Swollen hepatocytes with glycogen deposits, lipid vacuoles, and collagen deposits | Swollen hepatocytes with glycogen deposits | Swollen hepatocytes with glycogen deposits and lipid vacuoles | Swollen hepatocytes with glycogen deposits, lipid vacuoles, and collagen deposits | Swollen hepatocytes with glycogen deposits and lipid vacuoles |
Treatment | Corn starch (4–6 g/kg/day), high protein diet (2 g/kg/day) | Corn starch (6–8 g/kg/day), high protein diet (3 g/kg/day) | Corn starch (4–6 g/kg/day), high protein diet (2-2.5 g/kg/day) | Corn starch (8 g/kg/day), high protein diet (2 g/kg/day) | High protein diet (2.5 g/kg/day) |