Glycogen storage disease due to aldolase A deficiency (Q84794): Difference between revisions

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Latest revision as of 10:08, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1020924235
English	Glycogen storage disease due to aldolase A deficiency	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.