Aconitase deficiency (Q93771)

Aconitase deficiency is a myopathy characterised by severe exercise intolerance and deficiency of skeletal muscle succinate dehydrogenase and aconitase. Mild physical activity is associated with cardiac palpitations, lactic acidosis, muscle fatigue and weakness, and dyspnoea. Intense physical activity may trigger acute episodes associated with profound muscle weakness with pain and swelling, myoglobinuria, and in severe cases, extensive muscle paralysis and circulatory shock.