Catalog

Glycogen storage disease due to aldolase A deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to aldolase A deficiency – http://id.who.int/icd/entity/1020924235

Aldolase A deficiency is an enzyme deficiency that may lead to myopathy with exercise intolerance and rhabdomyolysis associated with haemolytic 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.