Glycogen storage disease due to aldolase A deficiency (Q84794): Difference between revisions
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A deficiência de aldolase A é uma deficiência enzimática que pode levar a miopatia com intolerância ao exercício e rabidomiólise associada a anemia hemolítica. Aldolase é uma enzima glicolítica envolvida na clivagem da frutose 1,6 difosfato em trioses fosfato. A isoforma da aldolase A é predominante nos músculos e nos glóbulos vermelhos. A condição é transmitida como um traço autossômico recessivo. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
