Variable | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Normal |
---|---|---|---|---|---|
Creatine kinase (U/l) | 424 | 410 | 810 | 239 | Women <80 Men <140 |
Glutamic oxaloacetic transaminase (U/l) | 25 | 45 | 101 | 613 | 6-17 |
Cholesterol (U/l) | 6.15 | 4.20 | 4.75 | 5.51 | 2.71-5.69 |
Abnormal response to glucagon injection | NP | NP | + | + | |
Pathological exercise test | + | + | NP | NP | |
Echocardiography: | |||||
Cardiomyopathy | + | ++ | + | - | |
Nerve conduction study: | |||||
Reduced nerve conduction velocity | + | - | + | - | |
Electromyography: | |||||
Fibrillation activity | + | ++ | ++ | + | |
Myopathic features | ++ | ++ | ++ | + | |
Neurogenic features | + | + | + | + | |
Muscle biopsy: | |||||
Glycogen concentration (mg/g NCP) | 179 | 149 | 180 | NP | 60-105 |
Amylo-1,6-glucosidase (U/g NCP) | 1.0 | 1.1 | NP | NP | 3.0-6.3 |
Acid maltase (U/g NCP) | 2.0 | 2.0 | NP | NP | 1.2-3.5 |
N-acetyl-glucosaminidase (U/g NCP) | 4.3 | 3.3 | NP | NP | 2.6-5.4 |
PAS Positive vacuolar myopathy | ++ | + | ++ | NP | |
Cytoplasmatic glycogen pools in electron microscopy | ++ | + | + | NP | |
Liver biopsy suggestive of GSD III | NP | ++ | ++ | ++ |
NCP=non-collagen protein; PAS=periodic acid Schiff; GSD=glycogen storage disease. NP=laboratory test not performed; −=negative or absent; +/++= evident or present (two categories).