CHARACTERIZATION OF ENZYME DEFECTS IN HUMAN PORPHYRIAS

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。其目的是确定已知或疑似卟啉病患者及其家属的酶缺陷。方法包括测定红细胞中的胆红素原脱氨酶和卟啉，血浆和尿中的卟啉和卟啉前体(β-氨基酮丙酸和卟啉原)，以及粪便中的卟啉。选定的患者被纳入该机构和其他机构的其他卟啉病研究方案，包括分析DNA以确定血红素生物合成途径酶基因的特定突变。

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 purpose is to characterize enzyme defects in patients with known or suspected porphyria and their families. Methods include measurement of porphobilinogen deaminase and porphyrins in erythrocytes, porphyrins and porphyrin precursors (delta-aminolevulinic acid and porphobilinogen) in plasma and urine, and porphyrins in feces. Selected patients are entered in other porphyria research protocols at this and other institutions, including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes.