Diagnosis Methods of Metabolic Myopathies: Physiological Tests (Forearm Exercise Test)

Banu KADIOĞLU YILMAZa

aSelçuk University Faculty of Medicine, Department of Pediatric Metabolism Diseases, Konya, Türkiye

ABSTRACT
Metabolic myopathies are inherited metabolic diseases, including genetic disorders involving skeletal muscle or multisystem. It is important to apply the forearm exercise test, which has high sensitivity and specificity, especially in glycolysis or glycogenolysis pathway disorders, before performing muscle biopsy or molecular genetic analysis in the differential diagnosis. A three-fold increase in ammonia and lactate levels in forearm exercise test generally excludes glycolysis or glycogenolysis disorders. In contrast, an increase in ammonia level while no increase in lactate level mostly suggests disorders in these two pathways. The absence of ammonia increase while lactate is elevated suggests myoadenylate deaminase deficiency. When lactate and ammonia levels do not increase after the test, this indicates usually insufficient effort. The forearm exercise test is beneficial for clinicians to focus on diseases in a smaller group and reduce unnecessary tests. However, possible preliminary diagnoses should also be confirmed by genetic analysis.
Keywords: Exercise test; lactic acid; ammonia; glycolysis; glycogenolysis

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