GALACTOSE METABOLIC PATHWAYS: RELATIONSHIP TO CLINICAL OUTCOME

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。总的假设是，在红细胞中具有相同的半乳糖-1-磷酸尿苷转移酶（GALT）分子和生化突变的半乳糖血症患者，其神秘的临床结果是由半乳糖代谢的替代途径和器官特异性损伤引起的。这一假设将通过Q188R突变纯合子的半乳糖血症患者体内半乳糖代谢途径的定量和定性比较来验证，并具有其他已定义的突变。

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.