Aldolase A deficiency
Aldolase A deficiency | |
OMIM | 103850 |
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DiseasesDB | 29873 |
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Overview
Aldolase A deficiency is a deficiency of the enzyme aldolase A that is found predominantly in muscle and red blood cells.
It may lead to myopathy, exercise intolerance and rhabdomyolysis associated with hemolytic anaemia.