ENIGMA OF GALACTOSEMIA--SEARCHING FOR ANSWERS

经典的半乳糖血症未能得到充分的饮食治疗。 限制半乳糖的使用，导致长期严重的并发症。 我们现在面临的挑战是理解这种神秘的紊乱并解决 如何适当地为受影响的患者提供治疗的两难境地。 这项建议涵盖了对基本的 缺铁性贫血患者的生化和遗传异常 半乳糖-1-磷酸尿苷转移酶。它代表了一种协调一致的努力 结合基础和临床研究。它展现了潜在的 用于新技术和实验方法的应用。它 响应一项针对积极研究努力的任务 了解非霍奇金淋巴瘤的病理生物化学和分子遗传学基础 并利用这一结果开发新的治疗方法 战略。为了回答半乳糖血症的谜团，该计划包括 三个由两个核心支持的项目。它们是： 项目1：半乳糖途径及其在半乳糖血症中的调控 病人。 项目2：正常和健康人的糖核苷酸代谢和代谢通量 半乳糖血症细胞。 项目3：分子遗传学。 磁芯 A-分析和细胞培养核心 B--行政核心

Classic galacosemia has failed to be adequately treated by dietary restrictions of galactose with resulting long-term serious complications. We are now challenged to understand this enigmatic disorder and to solve the dilemma of how to adequately provide therapy for affected patients. This proposal encompasses a broad spectrum of research into the basic biochemical and genetic abnormalities in patients with deficiency of galactose-1-phosphate uridyltransferase. It presents a concerted effort to wed both basic and clinical investigation. It presents the potential for application of new techniques and experimental approaches. It responds to a mandate for targeting a vigorous research effort to understand the pathobiochemistry and molecular genetic basis for galactosemia and to utilize the results to develop new therapeutic strategies. To answer the enigma of galactosemia the program consists of three projects supported by two cores. These are: Project 1: Galactose Pathways and Their Regulation in Galactosemic Patients. Project 2: Sugar Nucleotide Metabolism and Metabolic Flux in Normal and Galactosemic cells. Project 3: Molecular Genetics. Cores A - Analytical and Cell Culture Core B - Administrative Core