中华医学杂志
2020年 · 第100卷第14期
中华医学杂志
- 全部
- 专家论坛
- 标准与规范
- 临床研究
- 基础研究
- 流行病学调查
- 经验交流
- 病例报告
- 综述
Porphyria is a kind of metabolic disease caused by the abnormal increase of the concentration of porphyrin or its precursors [such as delta-aminolevulinic acid (delta-ALA) and porphobilinogen (PBG)] due to the lack of enzyme activity in the heme biosynthesis pathway, which accumulates in tissues and causes cell damage. Porphyria is a rare disease, and the incidence of different types of porphyria varies. In adults, porphyria cutanea tarda (PCT), acute intermittent porphyria (AIP) and erythropoietic protoporphyria (EPP) are the most common. Symptomatic PCT prevalence was 40 per million (US)[
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