Yokoi S, Nakayama H, Negishi T
Clin Chim Acta. 1975 Aug 4;62(3):415-23. doi: 10.1016/0009-8981(75)90093-5.
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.
在尸检时获取了一名拉福拉病患者的大脑皮质、肝脏和心肌组织，并进行了生化研究。1. 心肌和肝脏中的葡萄糖含量几乎为零，而对照组心肌中的葡萄糖含量为0.66毫克/克湿重，肝脏中的为8.80毫克/克湿重。大脑皮质和心肌中的糖原含量分别比对照组高约10倍和3倍。2. 从大脑皮质、肝脏和心肌中提取的多聚葡萄糖的外部葡萄糖链比对照组肝脏中的长，但观察到其具有正常的α或β 1,4-糖苷键。3. 大脑皮质、肝脏和心肌中的葡萄糖-6-磷酸酶和淀粉-1,6-糖苷酶的活性保存良好。上述三个器官中的酸性麦芽糖酶活性以及心肌中的中性麦芽糖酶活性分别比对照组升高了两倍和一点五倍。心肌中的磷酸化酶水平极低，而大脑皮质和肝脏中的磷酸化酶活性正常。根据这些发现，对拉福拉病中的糖原代谢进行了讨论。
