CHARACTERIZATION OF ENZYME DEFECTS IN HUMAN PORPHYRIAS

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（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。所列机构为中心，不一定是研究者所在机构。目的是表征已知或疑似卟啉症患者及其家属的酶缺陷。方法包括测量红细胞中的胆色素原脱氨酶和卟啉，血浆和尿液中的卟啉和卟啉前体（δ-氨基乙酰丙酸和胆色素原），以及粪便中的卟啉。选定的患者进入其他卟啉病研究方案在这个和其他机构，包括DNA分析，以确定特定的突变基因血红素生物合成途径酶。

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.