Version May 2024
| 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 |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
