亚急性坏死性脑脊髓病（Leigh综合征）与肌肉和肝脏中丙酮酸、苹果酸和2-氧代戊二酸氧化紊乱相关。

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.

作者信息

Van Erven P M, Gabreëls F J, Ruitenbeek W, Den Hartog M R, Fischer J C, Renier W O, Trijbels J M, Slooff J L, Janssen A J

出版信息

Acta Neurol Scand. 1985 Jul;72(1):36-42. doi: 10.1111/j.1600-0404.1985.tb01545.x.

DOI:10.1111/j.1600-0404.1985.tb01545.x

PMID:4050316

Abstract

We studied a 17-year-old girl with subacute necrotizing encephalomyelopathy (Leigh syndrome). Lactate and pyruvate levels were increased in serum and cerebrospinal fluid. The oxidation rates of all substrates tested, i.e. pyruvate in liver, and pyruvate, malate and 2-oxoglutarate in muscle, were decreased, as was the production of adenosine triphosphate plus creatine phosphate. Cytochrome content was normal. The data imply a defect in oxidative phosphorylation, outside the cytochrome region.

摘要

我们研究了一名患有亚急性坏死性脑脊髓病（Leigh综合征）的17岁女孩。血清和脑脊液中的乳酸和丙酮酸水平升高。所有测试底物的氧化率均降低，即肝脏中的丙酮酸，以及肌肉中的丙酮酸、苹果酸和2-氧代戊二酸，三磷酸腺苷加磷酸肌酸的生成也减少。细胞色素含量正常。这些数据表明在细胞色素区域之外的氧化磷酸化存在缺陷。