Aconitase deficiency

Aconitase deficiency is defined as a severe myopathy with stress intolerance and deficiency of muscle succinate dehydrogenase. The cause of the syndrome is a mutation of the ISCU gene for the iron-sulfur cluster scaffold protein.

Patients develop stress intolerance in childhood. After that, palpitations can be triggered by physical exertion. Also muscle fatigue and weakness, dyspnoea and lactic acidosis can occur.

Intense physical activity leads to periods of great muscle weakness, followed by swelling, pain and myoglobinuria. In some serious cases, patients suffer from muscle paralysis and even circulatory shock. In some cases, acute attacks triggered by exercise have resulted in death.

The symptoms and prognosis vary greatly. In some cases, acute attacks triggered by exercise have resulted in death.

The inheritance is autosomal recessive.