Glycogen metabolism and glycogen storage disorders

Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects.

Active glycogen metabolism has been demonstrated in both normal and glycogen-rich erythrocytes taken from patients with type III glycogen storage disease. Activity of all enzymes catalyzing the reactions required for the synthesis and degradation of glycogen have been demonstrated in the mature erythrocytes. Uniformly labeled glucose-(14)C is incorporated into glycogen in intact cells of both t...

Glycogen metabolism in glycogen-rich erythrocytes.

High concentrations of red blood cell glycogen were visualized by el.ctron microscopy and demonstrated biochemically in amylo1 ,6-glucosidaseand phosphorylase-deficient red blood cells. Glycogen concentration decreased as a function of cell age. Similar incorporation rates of ‘4C-U-glucose into glycogen were observed in amylo-1 ,6-glucosidase-deflcient and normal erythrocytes, characterized by ...

Pompe's Glycogen Storage Disease

The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

Pompe's Glycogen Storage Disease

The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

The glycogen storage diseases.