High muscle glycogen content (2.5-4.1% versus
0.2-0.9% normal); fall in blood lactate and pyruvate
after exercise (normal is sharp rise) with no
postexercise drop in pH; normal hyperglycemic
response to epinephrine (thus normal hepatic
enzyme); myoglobinuria after strenuous exercise;
autosomal recessive.
Not as serious as glucose-
-phosphatase deficiency;
liver cannot make glucose from glycogen but can
make it from pyruvate; mild hypoglycemia and
ketosis; hepatomegaly due to glycogen accumulation;
probably more than one disease; must be distinguished
from defects in the glycogen phosphorylase-
activating system.
Shows properties similar to type V; autosomal
recessive; it is not completely clear why this defect
results in increased glycogen storage.
Hepatomegaly; increased hepatic glycogen stores;
probably X-linked, but there may be more than one
type, with some autosomally inherited; must be
distinguished from glycogen phosphorylase deficiency.
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