INBORN ERRORS OF CARBOHYDRATE METABOLISM

我们的研究旨在全面了解碳水化合物代谢 肝脏和其他动物组织；我们以并行和互补的方式 倾向于对相关先天性疾病给出生化解释 最终允许适当的治疗。 在接下来的几年里， 我们的研究将更具体地针对以下方面的调查： 果糖2, 6-二磷酸在控制糖酵解和糖酵解中的作用 各种组织中的糖异生；我们也会尝试检测先天 与果糖形成或降解相关的代谢错误2， 6-二磷酸。 过氧化物酶体和内质网疾病会 也有待研究。 来自受影响患者的肝脏和肌肉活检 各种先天性代谢缺陷（主要是糖原累积病， 果糖不耐受、半乳糖血症、先天性溶酶体疾病）经常 该实验室从主要位于 西欧也有南美等国家。 这些 活检将提交给生化和超微结构 调查。 糖酵解和糖异生的实验工作将是 对大鼠或其他物种的分离肝细胞进行 还作用于大脑、胰岛、脂肪组织和酵母。 果糖 2, 6-二磷酸将通过其刺激 PPi: 果糖的特性进行测定 6-磷酸磷酸转移酶。 该方法可以确定分数 皮摩尔果糖 2, 6-二磷酸。 相同的方法将是 用于测量两种形式的磷酸果糖激酶 2 和果糖 2， 6-双磷酸酶。 所有这些测量都可以在少于 1 毫克组织。

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.