Catalog

Aconitase deficiency

No MMS code

Link to WHO Definition

Aconitase deficiency – http://id.who.int/icd/entity/619514265

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.