GALACTOSE METABOLIC PATHWAYS

半乳糖代谢途径

• 批准号: 6415339
• 负责人: LOUIS J ELSAS
• 金额: $ 29.31万
• 依托单位: EMORY UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-12-01 至 2001-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6415339
• 关键词: UTP hexose 1 phosphate uridylyltransferase; carbohydrate metabolism; child (0-11); clinical research; congenital disorders; erythrocytes; galactose; galactosemias; gene mutation; human subject

The overall hypothesis is that enigmatic clinical outcomes in patients with galactosemia who have identical molecular and biochemical mutations in red blood cell galactose-1-phosphate uridyltransferase (GALT) are caused by alternative pathways and organ-specific impairment for galactose metabolism. This hypothesis will be tested by quantitative and qualitative comparisons of in vivo galactose metabolic pathways in patients with galactosemia who are homozygous for the Q188R mutation, and have other defined mutations.

总体假设是，红细胞半乳糖-1-磷酸尿苷酰转移酶（GALT）具有相同分子和生化突变的半乳糖血症患者的神秘临床结局是由半乳糖代谢的替代途径和器官特异性损伤引起的。 将通过定量和定性比较Q188 R突变纯合子和具有其他确定突变的半乳糖血症患者体内半乳糖代谢途径来检验这一假设。