ENIGMA OF GALACTOSEMIA--SEARCHING FOR ANSWERS

经典的半乳糖血症未能通过饮食治疗 半乳糖限制，导致长期严重并发症。 我们现在面临的挑战是了解这种神秘的疾病， 如何为受影响的患者提供充分治疗的困境。 这项建议包括对基本的生物技术进行广泛的研究， 生化和遗传异常的患者缺乏 半乳糖-1-磷酸尿苷酰转移酶。 它代表了一种协同努力， 将基础和临床研究结合起来。 它展现了 新技术和实验方法的应用。 它 响应一项任务，将积极的研究努力， 了解病理生物化学和分子遗传学基础， 半乳糖血症，并利用其结果开发新的治疗 战略布局 为了回答半乳糖血症之谜，该计划包括 由两个核心支持的三个项目。 这些是： 项目1：半乳糖代谢中的半乳糖途径及其调控 患者 项目2：糖核苷酸代谢和代谢通量在正常和 半乳糖细胞。 项目3：分子遗传学。 核 A -分析和细胞培养核心 B -管理核心

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