[Diagnosis of muscular intolerance during exercise caused by enzyme deficiency in adults]

The exertional muscle pain syndrome in adults is expressed by recurrent episodes of pain and/or episodes of acute rhabdomyolysis, sometimes with transient myoglobinuria or even acute renal failure. The enzymatic origin of this syndrome is suggested by a familial history, by its usual onset during childhood or adolescence, and by its recurrent attacks usually, but not exclusively, caused by exercise. The aetiological diagnosis, suggested by the clinical context and some dynamic tests, is almost always based on good histological and biochemical examinations of the muscle biopsy.