Biochemical studies on tissues from a patient with Lafora disease.
Tissues from the cerebral cortex, liver and myocardium of a patient with Lafora disease were obtained at autopsy and were studied biochemically. 1. Glucose content in the myocardium and liver was almost nil while that in the controls was 0.66 mg/g wet weight in the former and 8.80 mg/g wet weight in the latter. Glycogen content in the cerebral cortex and myocardium was about 10 and 3 times more than in controls. 2. Polyglucosan extracted from the cerebral cortex, liver and myocardium had a longer exterior glucose chain than that in the liver of the control but a normal, alpha or beta 1,4-glucosidic linkage was observed. 3. The activities of glucose-6-phosphatase and amylo-1,6-glucosidase in the cerebral cortex, liver and myocardium were well preserved. The activities of acid maltase in the three organs mentioned above and of neutral maltase in  the myocardium were elevated twice and one and half times more than the control. Phosphorylase levels in the myocardium were extremely small, while in the cerebral cortex and liver normal activities were observed. In light of these findings, glycogen metabolism in Lafora disease is discussed.
D000328:Adult; D002540:Cerebral Cortex / Q000378:metabolism; D002849:Chromatography, Gas; D004827:Epilepsy / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D005959:Glucosidases / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000378:metabolism; D008297:Male; D008320:Maltose; D009206:Myocardium / Q000378:metabolism; D009207:Myoclonus / Q000378:metabolism*; D009928:Organ Specificity; D013053:Spectrophotometry; D013056:Spectrophotometry, Ultraviolet
D008320:Maltose; D006003:Glycogen; D005952:Glucose-6-Phosphatase; D005959:Glucosidases; D005947:Glucose