两例磷酸烯醇式丙酮酸羧激酶缺乏症。

Two cases of phosphoenolpyruvate carboxykinase deficiency.

作者信息

Hommes F A, Bendien K, Elema J D, Bremer H J, Lombeck I

出版信息

Acta Paediatr Scand. 1976 Mar;65(2):233-40. doi: 10.1111/j.1651-2227.1976.tb16543.x.

DOI:10.1111/j.1651-2227.1976.tb16543.x

Abstract

Two children are described who suffered from hypoglycemia and liver impairment. Assays of gluconeogenic enzymes in liver samples taken immediately after death demonstrated a deficiency of phosphoenolpyruvate carboxykinase, a key enzyme of gluconeogenesis. Post mortem examination demonstrated massive fat deposition in liver and kidney and to a lesser extent in other tissues. The fatty changes in liver and kidney could be explained by the absence of phosphoenolpyruvate carboxykinase, which would cause an alteration in the mitochondrial-cytosolic processes related to gluconeogenesis.

摘要

本文描述了两名患有低血糖和肝功能损害的儿童。在死亡后立即采集的肝脏样本中对糖异生酶进行检测，结果显示磷酸烯醇丙酮酸羧激酶（糖异生的关键酶）缺乏。尸检显示肝脏和肾脏有大量脂肪沉积，其他组织中脂肪沉积程度较轻。肝脏和肾脏的脂肪变化可以用磷酸烯醇丙酮酸羧激酶的缺乏来解释，这会导致与糖异生相关的线粒体 - 胞质过程发生改变。