LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS

该子项目是利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得主要资金， 因此可以在其他CRISP条目中表示。列出的机构是 中心，不一定是研究者的机构。 目的研究高尿酸血症合并莱-尼汉综合征及其他疾病患者的嘌呤代谢。描述HGPRT酶、基因变异及其患者的表型，描述除HGPRT以外的高尿酸血症患者代谢异常的性质及其分子位点，并研究Lesch-Nyhan综合征的传播和使用杂合子检测的X连锁致死基因突变率。

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. To study metabolism of purines in patients with hyperuricemia who have the Lesch-Nyhan syndrome and other disorders. To characterize variant HGPRT enzymes, genes and the phenotypes of patients in whom they are found. To characterize the nature of metabolic abnormality and its molecular site in patients with hyperuricemias other than those involving HGPRT and to study transmission of Lesch-Nyhan syndrome and the mutation rate for x-linked lethal gene using heterozygote detection.