Grandchamp B, Deybach J C, Grelier M, de Verneuil H, Nordmann Y
Biochim Biophys Acta. 1980 May 22;629(3):577-86. doi: 10.1016/0304-4165(80)90163-4.
Partial deficiencies in enzymes activity of the heme biosynthesis pathway have been demonstrated in cultured skin fibroblasts and other tissues from patients suffering from congenital erythropoietic porphyria and hereditary coproporphyria. Using a new fluorimetric method, we have assessed quantitatively porphyrin biosynthesis from added delta-aminolevulinic acid in cultured fibroblasts of two congenital erythropoietic porphyria patients and one homozygous case of hereditary corproporphyria. The results were compared with those of the patients' parents and those of normal controls. All the porphyrins synthesized remained within the cells of normal subjects and of patients with congenital erythropoietic porphyria; these porphyrins were mostly (95%) protoporphyrin. The fibroblasts of the patient with homozygous hereditary coproporphyria synthesized the same amount of porphyrins, but only 25% were found within the cells, whereas 75% were found in the medium. The porphyrins found within the cells were coproporphyrin (25%) and protoporphyrin (75%); in the medium, only coproporphyrin was identified.
在先天性红细胞生成性卟啉病和遗传性粪卟啉病患者的培养皮肤成纤维细胞及其他组织中，已证实血红素生物合成途径的酶活性存在部分缺陷。我们采用一种新的荧光测定法，对两名先天性红细胞生成性卟啉病患者和一例遗传性粪卟啉病纯合子患者培养的成纤维细胞中，由添加的δ-氨基乙酰丙酸合成卟啉的情况进行了定量评估。并将结果与患者父母及正常对照者的结果进行了比较。正常受试者和先天性红细胞生成性卟啉病患者细胞内合成的所有卟啉均保留在细胞内；这些卟啉大部分（95%）是原卟啉。遗传性粪卟啉病纯合子患者的成纤维细胞合成的卟啉量相同，但仅25%存在于细胞内，而75%存在于培养基中。细胞内发现的卟啉是粪卟啉（25%）和原卟啉（75%）；在培养基中，仅鉴定出粪卟啉。
