De Meirleir L, Lissens W, Benelli C, Marsac C, De Klerk J, Scholte J, van Diggelen O, Kleijer W, Seneca S, Liebaers I
Department of Medical Genetics and Neuropediatrics, University Hospital, Vrije Universiteit Brussel, Belgium.
J Inherit Metab Dis. 1998 Feb;21(1):9-16. doi: 10.1023/a:1005351012066.
The pyruvate dehydrogenase complex (PDHc) is a multienzyme complex consisting of three catalytic and two regulatory enzymes, as well as a less well defined subunit called protein X. PDHc deficiency is a common cause of congenital lactic acidosis. Most patients with PDH deficiency have a mutation in the alpha chain of the PDH E1 enzyme. Very few patients have been described in whom the basic defect of a PDH deficiency is situated in the X protein. We studied a boy with severe lactic acidosis and developmental delay in whom a deficiency of PDH activity led to further investigations. Immunochemical analysis with anti-PDHc antibodies demonstrated an absence of the X component. This report is the fourth family in which an abnormal protein X has been found. In cases with PDH deficiency where no mutation of the PDHE1 alpha gene is found, further investigations by means of immunoblotting with specific antibodies against the different subunits should be performed.
丙酮酸脱氢酶复合体（PDHc）是一种多酶复合体，由三种催化酶、两种调节酶以及一个定义不太明确的名为蛋白X的亚基组成。PDHc缺乏是先天性乳酸性酸中毒的常见原因。大多数PDH缺乏患者的PDH E1酶α链存在突变。极少有患者被描述其PDH缺乏的基本缺陷位于X蛋白中。我们研究了一名患有严重乳酸性酸中毒和发育迟缓的男孩，其PDH活性缺乏促使进一步检查。用抗PDHc抗体进行免疫化学分析显示X成分缺失。本报告是发现异常蛋白X的第四个家系。在未发现PDHE1α基因突变的PDH缺乏病例中，应通过用针对不同亚基的特异性抗体进行免疫印迹法进一步检查。
