Scholnick P, Marver H S, Schmid R
J Clin Invest. 1971 Jan;50(1):203-7. doi: 10.1172/JCI106474.
A patient with erythropoietic protoporphyria was studied to determine the sites of excess protoporphyrin formation. The patient's protoporphyrin was pulse labeled by the simultaneous administration of the precursors 2-glycine-(14)C and 3,5-delta-aminolevulinic acid-(3)H; delta-aminolevulinic acid preferentially labels the hepatic pool. Blood and feces were studied at intervals for the next 14 days. Protoporphyrin was extracted from erythrocytes, plasma, and feces, identified by thin-layer chromatography, and quantitated spectrophotometrically, and its specific activity was determined by liquid scintillation spectrometry. Analysis of the kinetic and isotopic data indicated at least two sources of protoporphyrin, one localized in the erythroid cells, a second in the liver. The liver was responsible for the majority of the excess protoporphyrin. This report thus provides evidence of a genetic porphyria exhibiting an abnormality of porphyrin biosynthesis in at least two tissues. We propose that the disease, erythropoietic protoporphyria, be renamed erythrohepatic protoporphyria.
对一名红细胞生成性原卟啉病患者进行了研究，以确定原卟啉过量生成的部位。通过同时给予前体2-甘氨酸-（14）C和3,5-δ-氨基乙酰丙酸-（3）H对患者的原卟啉进行脉冲标记；δ-氨基乙酰丙酸优先标记肝脏池。在接下来的14天里定期对血液和粪便进行研究。从红细胞、血浆和粪便中提取原卟啉，通过薄层色谱法进行鉴定，用分光光度法定量，并通过液体闪烁光谱法测定其比活性。动力学和同位素数据分析表明原卟啉至少有两个来源，一个位于红细胞系细胞中，另一个在肝脏中。肝脏是大部分过量原卟啉的来源。因此，本报告提供了一种遗传性卟啉病的证据，该疾病在至少两个组织中表现出卟啉生物合成异常。我们建议将红细胞生成性原卟啉病更名为红细胞肝性原卟啉病。
