Glycogen Structure
Comments
Normal
Hypoglycemia; lack of glycogenolysis by epinephrine
or glucagon; ketosis, hyperlipidemia, hyperuricemia;
hepatomegaly; autosomal recessive. Galactose and
fructose not converted to glucose.
Normal
Clinically identical to type la.
Normal
Clinically identical to type la.
Normal
Normal
Clinically identical to type la.
How this deficiency leads to glycogen storage is not
well understood. In some cases, the heart is the
main organ involved; in others, the nervous system
is severely affected; autosomal recessive.
Abnormal; outer
chains missing or
very short; increased
number of branched
points
Hypoglycemia; diminished hyperglycemic response
to epinephrine or glucagon; normal hyperglycemic
response to fructose or galactose; autosomal
recessive. Six subtypes have been defined based
on relative effects on liver and muscle and on
properties of the enzyme.
Abnormal; very long
inner and outer
unbranched chain
Rare, or difficult to recognize; cirrhosis and storage
of abnormal glycogen; diminished hyperglycemic
response to epinephrine; abnormal liver function;
autosomal recessive.
