GALACTOSE METABOLIC PATHWAYS: RELATIONSHIP TO CLINICAL OUTCOME

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 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。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. 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.