Sperl W, Ruitenbeek W, Kerkhof C M, Sengers R C, Trijbels J M, Guggenbichler J P, Janssen A J, Bakkeren J A
Department of Paediatrics, University of Nijmegen, The Netherlands.
Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401.
An infant with moderate muscular hypotonia and congenital lactic acidosis died suddenly at the age of 3 months. Autopsy revealed no abnormalities responsible for this unexpected death. Measurement of mitochondrial enzymes involved in energy production indicated a severely decreased total pyruvate dehydrogenase complex (PDHC) activity in muscle tissue (0.23 nmoles x min-1 x mg protein-1, control range 2.8-8.7) and moderately decreased PDHC activity in fibroblasts (0.27 nmoles x min-1 x mg protein-1, control range 0.37-2.32). The activity of the first component E1 (pyruvate dehydrogenase) in muscle tissue was 10 times lower than that of controls (0.008 nmoles x min-1 x mg protein-1, control range 0.10-0.25). The activities of dihydrolipoyl dehydrogenase (E3) and various other mitochondrial enzymes were normal. Immunochemical analysis in skeletal muscle tissue and fibroblasts demonstrated a decrease in the amount of the alpha and beta subunits of E1. The features of this patient are compared with those of other patients reported in the literature with immunochemically confirmed combined E1 alpha and beta deficiency.
一名患有中度肌张力减退和先天性乳酸酸中毒的婴儿在3个月大时突然死亡。尸检未发现导致此次意外死亡的异常情况。对参与能量产生的线粒体酶的测量表明，肌肉组织中总丙酮酸脱氢酶复合体（PDHC）活性严重降低（0.23纳摩尔×分钟⁻¹×毫克蛋白⁻¹，对照范围2.8 - 8.7），成纤维细胞中PDHC活性中度降低（0.27纳摩尔×分钟⁻¹×毫克蛋白⁻¹，对照范围0.37 - 2.32）。肌肉组织中第一个组分E1（丙酮酸脱氢酶）的活性比对照组低10倍（0.008纳摩尔×分钟⁻¹×毫克蛋白⁻¹，对照范围0.10 - 0.25）。二氢硫辛酰胺脱氢酶（E3）和其他各种线粒体酶的活性正常。骨骼肌组织和成纤维细胞的免疫化学分析表明E1的α和β亚基数量减少。将该患者的特征与文献中报道的其他经免疫化学证实存在E1α和β联合缺乏的患者的特征进行了比较。
