Glycogen storage disease due to aldolase A deficiency (Q84794)
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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 |
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| 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. |
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CID11:ID_1020924235
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dki-india-ID_1020924235
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