亚急性坏死性脑脊髓病中丙酮酸羧化酶、丙酮酸脱羧酶和硫辛酰胺脱氢酶的研究。

Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy.

作者信息

Hansen T L, Christensen E, Brandt N J

出版信息

Acta Paediatr Scand. 1982 Mar;71(2):263-7. doi: 10.1111/j.1651-2227.1982.tb09412.x.

DOI:10.1111/j.1651-2227.1982.tb09412.x

Abstract

In two autopsy-proven cases of subacute necrotizing encephalomyelopathy (SNE, Leigh's Disease) the activities of pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase were investigated in cultured fibroblasts. Normal activities of pyruvate carboxylase and lipoamide dehydrogenase were found in both cases. The activity of pyruvate decarboxylase was low in one of the cases (p less than 0.05), while the activity in the other was within normal limits. The concentrations of alanine, lactate and pyruvate were normal or only slightly increased. The relationship between SNE and a defect in pyruvate metabolism is under discussion, and it is concluded that the general assumption that pyruvate carboxylase deficiency is the cause of SNE is not in agreement with our results or the present literature. However, pyruvate decarboxylase deficiency may in some cases contribute to the development of SNE.

摘要

在两例经尸检证实的亚急性坏死性脑脊髓病（SNE， Leigh病）病例中，对培养的成纤维细胞中丙酮酸羧化酶、丙酮酸脱羧酶和硫辛酰胺脱氢酶的活性进行了研究。两例病例中丙酮酸羧化酶和硫辛酰胺脱氢酶的活性均正常。其中一例丙酮酸脱羧酶的活性较低（p小于0.05），而另一例的活性在正常范围内。丙氨酸、乳酸和丙酮酸的浓度正常或仅略有升高。SNE与丙酮酸代谢缺陷之间的关系正在讨论中，得出的结论是，普遍认为丙酮酸羧化酶缺乏是SNE病因的观点与我们的结果或现有文献不一致。然而，丙酮酸脱羧酶缺乏在某些情况下可能导致SNE的发生。