Porphyria: practical advice for the clinical gastroenterologist and hepatologist.
Porphyria: practical advice for the clinical gastroenterologist and hepatologist.
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卟啉症：给临床胃肠病学家和肝病学家的实用建议。
DOI：
10.1159/000171172
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Bonkovsky,HL
中科院分区：
文献类型：
--
作者：
Bonkovsky,HL
卟啉症是正常卟啉和血红素代谢的代谢紊乱，通常是遗传性的。虽然血红素生物合成途径中的一种酶的活性缺乏是每种卟啉症的根本原因，但许多患有这种缺陷的人完全没有症状（“携带者”或“潜伏性”卟啉症）的事实强调了引起临床上的男性卟啉症的代谢因素的复杂性。然而，血红素合成途径的阐明为探讨卟啉病患者代谢中间体异常积累的化学原因提供了基础。概述了血红素合成途径中酶和代谢产物的顺序，以及代谢产物的表达模式，
The porphyrias are metabolic disorders, usually inherited, of normal porphyrin and heme metabolism. Although deficiency in activity of one of the enzymes of the heme biosynthetic pathway is the underlying cause of each of the porphyrias, the fact that many persons with such déficiences are totally asymptomatic ('carriers’ or ‘latent’porphy ries) emphasizes the complexities of the met abolic factors that give rise to clinically man ifest porphyrias. Nevertheless, elucidation of the heme synthetic pathway provided the basis for exploring the chemical reasons for the abnormal accumulation of metabolic in termediates in patients with porphyrias. De lineation of the sequence of enzymes and metabolites in the heme synthetic pathway, together with the patterns of metabolite ex