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Lafora 病(进行性肌阵挛性癫痫)是一种中枢神经系统常染色体隐性遗传进行性变性病,十岁左右起病。常染色体隐性遗传病中常见到先天性代谢障碍。曾有人提出Lafora 病可能是一种先天性碳水化合物代谢障碍。然而对一些临床通常使用的碳水化合物代谢实验研究显示正常反应,对涉及肝、肌肉及大脑皮层的糖原代谢酶的研究亦均正常。丙酮酸盐在糖原代谢中具有重要的位置,至今未获全面评价。几种进行性神经变性病已证实具有丙酮酸盐代谢缺陷,然而,其临床表现很不一致,尚无多葡聚糖沉积的报道。本文报告一例患Lafora 病的17岁女孩,通过体液的生化分析和脑活检以检查丙酮酸盐代谢。
Lafora disease (progressive myoclonic epilepsy) is a central nervous system autosomal recessive progressive degenerative disease, onset of age 10 or so. Autosomal recessive disease is common in congenital metabolic disorders. It has been suggested that Lafora disease may be a congenital carbohydrate metabolism disorders. However, studies of carbohydrate metabolism commonly used in clinical practice show normal reactions and studies of glycogen-metabolizing enzymes involving the liver, muscle and cerebral cortex are also normal. Pyruvate has an important position in glycogen metabolism and has not yet been fully evaluated. Several progressive neurodegenerative diseases have been shown to have pyruvate metabolism defects, however, their clinical manifestations are very heterogeneous and there is no report of multi-dextran deposition. This article reports a 17-year-old girl with Lafora disease who was tested for pyruvate metabolism by biochemical analysis of bodily fluids and brain biopsies.