MYOGLOBINURIA AND CARNITINE PALMITOYLTRAN SFERASE DEFICIENCY - DIAGNOSTIC-APPROACH AND MANAGEMENT

Carnitine palmitoyltransferase (CPT) deficiency is the most common met abolic cause of recurrent myoglobinuria. We describe Five patients wit h CPT deficiency who were recruited during a 24-months period. Phenoty pic expression ranged from mild myalgia without myoglobinuria to sever e exercise-induced attacks and a letal course. The pathophysiological basis of the clinical heterogeneity is discussed. The diagnostic proce dure includes a neurological and electromyographical examination as we ll as an exercise test and extensive biochemical investigations of mus cle biopsy specimens. Accurate diagnosis allows an early introduction of preventive measures and clearly improves the outcome.