We studied a 3 year old girl with mental retardation and limb muscle weakness. The
muscle glycogen content was 17.4 mg/g tissue, which was approximately three times
higher than normal. There were no other known abnormalities noted in this child that
could explain the cause of glycogen storage disease. Our in vitro glycolysis study
showed marked increase of pyruvate, but no increase in lactate levels.
The observed results suggested to us that an abnormal lactate dehydrogenase might
account for the abnormal accumulation of glycogen in the muscle.
Glycogen myopathy - Lactate dehydrogenase
