Glycogen storage myopathy with abnormal lactate dehydrogenase.
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.
D002675:Child, Preschool; D005260:Female; D006003:Glycogen / Q000032:analysis* / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000378:metabolism*; D006019:Glycolysis; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000378:metabolism*; D009132:Muscles / Q000032:analysis* / Q000201:enzymology / Q000378:metabolism
D006003:Glycogen; D007770:L-Lactate Dehydrogenase