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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Evaluation of the patient with suspected metabolic myopathy

Evaluation of the patient with suspected metabolic myopathy
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
ALT: serum alanine aminotransferase; AST: serum aspartate aminotransferase; CBC: complete blood count; CSF: cerebrospinal fluid; LDH: lactate dehydrogenase; LFT: liver function tests; MRI: magnetic resonance imaging.
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