Busard H L, Renier W O, Gabreëls F J, Trijbels J M, Janssen A J, Lamers K J
Institute of Neurology, University Hospital Nijmegen, The Netherlands.
Epilepsia. 1989 May-Jun;30(3):314-7. doi: 10.1111/j.1528-1157.1989.tb05303.x.
Lafora disease is an autosomal recessive and progressive degenerative disorder of the central nervous system (CNS). The pathogenic mechanism has been presumed to be an inborn error of carbohydrate metabolism, although this has never been proved. In a case of proven Lafora disease, pyruvate metabolism, which has a central position in carbohydrate metabolism, was studied in body fluids under various conditions and in brain biopsy material. No abnormalities in this metabolic pathway were found. This finding plus earlier reports in the literature exclude a defect in glycolysis; thus, a disturbance of carbohydrate metabolism as the pathogenic mechanism of Lafora disease is unlikely.
拉福拉病是一种常染色体隐性进行性中枢神经系统（CNS）退行性疾病。尽管尚未得到证实，但发病机制被推测为碳水化合物代谢的先天性缺陷。在一例已确诊的拉福拉病患者中，对碳水化合物代谢中占据核心地位的丙酮酸代谢，在各种条件下的体液及脑活检材料中进行了研究。未发现该代谢途径存在异常。这一发现加上文献中早期的报道排除了糖酵解缺陷；因此，碳水化合物代谢紊乱作为拉福拉病的发病机制不太可能。
