INBORN ERRORS OF CARBOHYDRATE METABOLISM

我们的研究旨在全面了解 肝脏和其他动物组织;以平行和互补的方式， 倾向于对相关的先天性疾病给予生物化学解释 最终得到适当的治疗。 在接下来的几年里， 我们的研究将更具体地面向调查 果糖2，6-二磷酸在糖酵解控制中的作用 在各种组织中的胚胎发育;我们还将尝试检测先天性 与果糖2的形成或降解相关的代谢错误， 6-二磷酸。 过氧化物酶体和内质网疾病将 也被研究。 肝脏和肌肉活组织检查， 各种先天性代谢缺陷（主要是糖原累积病， 果糖不耐症、半乳糖血症、先天性溶酶体疾病） 本实验室从许多临床中心接收，这些临床中心主要位于 西欧也有，南美洲和其他国家也有。 这些 活检将提交给生化和超微结构 调查 关于糖酵解和脂肪生成的实验工作将在 对大鼠或其他物种的分离肝细胞进行， 还有大脑、胰岛、脂肪组织和酵母。 果糖 2，6-二磷酸将通过其刺激PPi：果糖的性质来测定 6-磷酸磷酸转移酶 该方法允许确定分数 2，6-二磷酸果糖。 同样的方法将是 用于测量磷酸果糖激酶2和果糖2的两种形式， 6-二磷酸酶。 所有这些测量都可以在不到1个 mg组织。

Our research is aimed at a full understanding of carbohydrate metabolism in the liver and other animal tissues; in a parallel and complementary way we tend to give a biochemical explanation to the related congenital disorders allowing eventually an appropriate treatment. During the next few years, our research will be more specifically oriented to an investigation of the role of fructose 2, 6-bisphosphate in the control of glycolysis and gluconeogenesis in various tissues; we will also try to detect inborn errors of metabolism related to the formation or degradation of fructose 2, 6-bisphosphate. Diseases of peroxysomes and endoplasmic reticulum will also be studied. Liver and muscle biopsies from patients affected by various inborn errors of metabolism (mostly glycogen storage disease, fructose intolerance, galactosemia inborn lysosomal diseases) are regularly received in this laboratory from many clinical centers located mostly in Western Europe but also in South America and other countries. These biopsies will be submitted to both biochemical and ultrastructural investigation. Experimental work on glycolysis and gluconogenesis will be performed on isolated hepatocytes from either rats or other species and also on the brain, pancreatic islets, adipose tissue and yeast. Fructose 2, 6-bisphosphate will be assayed by its property to stimulate PPi:fructose 6-phosphate phosphotransferase. This method allows to determine a fraction of picomole of fructose 2, 6-bisphosphate. The same methodology will be used to measure the two forms of phosphofructokinase 2 and fructose 2, 6-bisphosphatase. All these measurements can be performed on less than 1 mg tissue.