FATAL LACTIC-ACIDOSIS DUE TO DEFICIENCY OF E1 COMPONENT OF THE PYRUVATE-DEHYDROGENASE COMPLEX
FATAL LACTIC-ACIDOSIS DUE TO DEFICIENCY OF E1 COMPONENT OF THE PYRUVATE-DEHYDROGENASE COMPLEX
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DOI：
10.1007/bf01799876
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发表时间：
1988-01-01
影响因子：
4.2
通讯作者：
TURNBULL, DM
中科院分区：
文献类型：
--
作者：
BIRCHMACHIN, MA;SHEPHERD, IM;TURNBULL, DM
丙酮酸脱氢酶复合物缺乏被认为是乳酸酸中毒的常见原因。我们报告一个病人乳酸酸中毒和间歇性无力。完整的骨骼肌和肝脏线粒体组分的丙酮酸氧化率受损，丙酮酸脱氢酶复合物（PDC）的活性较低。免疫反应性二氢硫辛酰转乙酰酶和二氢硫辛酰脱氢酶在肝脏和骨骼肌线粒体组分的患者的量是正常的。然而，PDC的E1组分的α和β亚基的浓度均明显较低。
Pyruvate dehydrogenase complex deficiency is thought to be a common cause of lactic acidosis. We report a patient with lactic acidosis and intermittent weakness. The rate of oxidation of pyruvate by intact skeletal muscle and liver mitochondrial fractions was impaired and pyruvate dehydrogenase complex (PDC) activity was low. The amounts of immunoreactive dihydrolipoyl transacetylase and dihydrolipoyl dehydrogenase in liver and skeletal muscle mitochondrial fractions from the patient were normal. However, there were markedly lower concentrations of both theαandβsubunits of the E1 component of PDC.