| Aldolase A deficiency | |
|---|---|
| Classification and external resources | |
| ICD-10 | E74.1 |
| OMIM | 611881 |
| DiseasesDB | 29873 |
Aldolase A deficiency, also called ALDOA deficiency and red cell aldolase deficiency,[1] is an autosomal recessive[2] metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in muscle and red blood cells. It may lead to myopathy, exercise intolerance and rhabdomyolysis associated with hemolytic anaemia.
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