General investigations |
Blood |
Creatinine kinase blood level (at rest, during episodes) |
Lactate, pyruvate, LDH, LFTs, uric acid |
CBC, electrolytes, glucose |
Lactate, pyruvate, and lactate/pyruvate ratio |
ALT, AST, LDH |
Carnitine - free, total, and free/total ratio |
Ketones |
Myoglobin |
Ca, K, PO4 |
Urine |
Myoglobin |
Ketones |
Specific investigations |
Cardiac evaluation |
Electrocardiography |
Echocardiography |
Lipid metabolism defects |
Plasma carnitine - free, total, free/total ratio |
Serum acylcarnitines, free fatty acids |
Serum glucose, ammonia, ketones |
Serum free fatty acid/ketone ratio |
Urine dicarboxylic acids |
Urine acylglycines and organic acids |
Skin fibroblast culture for enzyme assay |
Electromyography and nerve conduction studies |
Biochemical and/or molecular studies |
Glycolytic/glycogenolytic defects |
CBC, reticulocyte count, bilirubin |
Electromyography and nerve conduction studies |
Muscle and skin biopsies for histology and enzyme assays |
Biochemical and/or molecular studies |
Mitochondrial defects |
Other system evaluation (eg, endocrine, cardiac) |
Serum lactate, pyruvate, lactate/pyruvate ratio |
CSF lactate, pyruvate, and lactate/pyruvate ratio |
Urine organic acids |
MRI spectroscopy of muscle and brain |
Electromyography and nerve conduction studies |
Muscle and skin biopsies for histology and enzyme assays |
Biochemical and/or molecular studies |
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