Glycogen Storage Diseases
Q: Muscle glycogen storage diseases cause exercise intolerance and muscle cramps.
Did You Know?
This statement is true, but it describes only one side of the test's utility. The osmotic fragility test measures how well red blood cells can swell without bursting when placed in solutions with progressively lower salt concentrations (hypotonic solutions). Cells with a normal biconcave shape swell and lyse at a characteristic point. In hereditary spherocytosis, the spherical cells have less membrane surface area and cannot swell as much; they lyse more easily (increased fragility). Conversely, in conditions like thalassemia or liver disease, flat target cells have excess membrane and can swell more, so they are more resistant to lysis (decreased fragility). The test is valuable for detecting both types of membrane abnormalities.
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