Aldolase A deficiency

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Aldolase A deficiency
OMIM 103850
DiseasesDB 29873

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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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.

References

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