Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, UOC General Medicine, via F. Sforza 35, 20122 Milan, Italy.
Int J Mol Sci. 2020 May 14;21(10):3462. doi: 10.3390/ijms21103462.
Porphyria refers to a group of fascinating diseases from a metabolic and nutritional standpoint as it provides an example of how metabolic manipulation can be used for therapeutic purposes. It is characterized by defects in heme synthesis, particularly in the erythrocytes and liver. Specific enzymes involved in heme biosynthesis directly depend on adequate levels of vitamins and minerals in the tissues. Moreover, micronutrients that are required for producing succinyl CoA and other intermediates in the Krebs (TCA) cycle are indirectly necessary for heme metabolism. This review summarizes articles that describe the nutritional status, supplements intake, and dietary practices of patients affected by porphyria, paying special attention to the therapeutic use of nutrients that may help or hinder this group of diseases.
卟啉症从代谢和营养的角度来看是一组引人入胜的疾病，因为它为代谢操纵如何用于治疗目的提供了一个例子。它的特征是血红素合成缺陷，特别是在红细胞和肝脏中。血红素生物合成中涉及的特定酶直接依赖于组织中维生素和矿物质的充足水平。此外，用于产生琥珀酰辅酶 A 和克雷布斯（TCA）循环中其他中间产物的必需微量营养素对于血红素代谢也是间接必需的。这篇综述总结了描述卟啉症患者营养状况、补充剂摄入和饮食实践的文章，特别关注可能有助于或阻碍这组疾病的营养素的治疗用途。
