Elder G H, Evans J O, Thomas N
Lancet. 1976 Dec 4;2(7997):1217-9. doi: 10.1016/s0140-6736(76)91143-0.
The activity of coproporphyrinogen oxidase (E.C. 1.3.3.3) in cultured skin fibroblasts from three patients with hereditary coproporphyria (H.C.) was approximately half that in fibroblasts from normal subjects and patients with other types of porphyria. It is suggested that this is the primary defect in H.C., which is inherited as an autosomal dominant, and that the same abnormality is present in the liver. Consideration of the probable relative activities of the enzymes of haem biosynthesis in the liver in H.C. suggests that the acute attacks of porphyria which are its major clinical manifestation occur when the activity of uroporphyrinogen-I-synthase (E.C. 4.3.1.8) becomes rate-limiting for haem synthesis.
三名遗传性粪卟啉病（H.C.）患者培养的皮肤成纤维细胞中，粪卟啉原氧化酶（E.C. 1.3.3.3）的活性约为正常受试者及其他类型卟啉病患者成纤维细胞的一半。有人提出，这是H.C.的原发性缺陷，该病为常染色体显性遗传，且肝脏中也存在同样的异常情况。对H.C.患者肝脏中血红素生物合成酶可能的相对活性进行考量后表明，作为其主要临床表现的卟啉病急性发作，发生于尿卟啉原-I-合酶（E.C. 4.3.1.8）的活性成为血红素合成的限速因素之时。
