Aldolase A deficiency
Aldolase A deficiency | |
OMIM | 103850 |
---|---|
DiseasesDB | 29873 |
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch. Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]
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.