| A deficiency of glycogen debranching enzyme leads to
glycogen storage disease type III, one of the more common types of glycogen
storage disease. Without glycogen debranching enzyme, only the ourter most
chains can be broken down, leaving a majority of the highly-branched polysaccharide
intact. This leads to a build-up of glycogen, mostly in the liver and muscle
tissue, which usually contain the most of the enzyme.
Common symptoms include enlargement of the liver (hepatomegaly)
and low blood sugar (hypoglycemia). Less common symptoms include can cause
enlargement of the spleen (splenomegaly) and elevated levels of lipids
in the blood. Rarely, a deficiency in glycogen debranching enzyme can lead
to cirrhosis of the liver, enlargement of the heart and muscle wasting. |
