GALACTOSE METABOLIC PATHWAYS: RELATIONSHIP TO CLINICAL OUTCOME

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 总体假设是，在红细胞半乳糖-1-磷酸尿苷转移酶(GALT)具有相同的分子和生化突变的半乳糖血症患者中，令人费解的临床结果是由半乳糖代谢的替代途径和器官特异性损害引起的。这一假设将通过对半乳糖症患者体内半乳糖代谢途径的定量和定性比较来验证，这些患者是Q188R突变纯合的，并具有其他明确的突变。

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.