Aldolase A deficiency
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Summary
Aldolase A deficiency is an enzyme deficiency that may lead to myopathy with exercise intolerance and rhabdomyolysis associated with hemolytic anaemia. Aldolase is a glycolytic enzyme involved in cleaving fructose 1,6 diphosphate into triose phosphates. Aldolase A isoform is predominant in muscle and red blood cells. The condition is transmitted as an autosomal recessive trait. *Author: C. Baussan, M.D. (February 2005)*.
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