Preferred Label : Aconitase deficiency;
ICD-11 definition : 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.;
Origin ID : 619514265;
Currated CISMeF NLP mapping
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.
