Matuda S, Kitano A, Sakaguchi Y, Yoshino M, Saheki T
Clin Chim Acta. 1984 Jun 27;140(1):59-64. doi: 10.1016/0009-8981(84)90151-7.
The overall and three component activities of pyruvate dehydrogenase complex were measured in the liver and muscle from a patient who died at 1.9 years with increased concentrations of serum lactate, alpha-ketoglutarate and branched chain amino acids. The component activities of both lipoate acetyltransferase and pyruvate dehydrogenase were similar to those of normal controls, but the overall pyruvate dehydrogenase complex activity was 11 to 30% of controls and lipoamide dehydrogenase activity was not detected. The overall activity was significantly increased by the addition of lipoamide dehydrogenase purified from human liver. Immunochemical studies carried out with antibody prepared against lipoamide dehydrogenase from rat liver, could detect no immunoreactive material in liver and muscle homogenates from the patient, suggesting that the deficiency of lipoamide dehydrogenase activity was due to the lack of enzyme protein.
在一名1.9岁死亡患者的肝脏和肌肉中，测定了丙酮酸脱氢酶复合体的总体活性及三个组分的活性。该患者血清乳酸、α-酮戊二酸和支链氨基酸浓度升高。硫辛酰乙酰转移酶和丙酮酸脱氢酶的组分活性与正常对照相似，但丙酮酸脱氢酶复合体的总体活性仅为对照的11%至30%，且未检测到二氢硫辛酰胺脱氢酶活性。加入从人肝脏纯化的二氢硫辛酰胺脱氢酶后，总体活性显著增加。用针对大鼠肝脏二氢硫辛酰胺脱氢酶制备的抗体进行免疫化学研究，在该患者的肝脏和肌肉匀浆中未检测到免疫反应性物质，提示二氢硫辛酰胺脱氢酶活性缺乏是由于酶蛋白缺失所致。
