Porphyria : Guidelines for the training of interns, 5th year students

Abstract

Porphyria is a group of hereditary diseases that are based on a violation of heme biosynthesis, which leads to excessive accumulation of porphyrins and their precursors in the body, namely, porphobilinogen (PBG) and δ-amino-levulinic acid (ALA). Excess of these substances has a toxic effect on the body and causes characteristic clinical symptoms. The reason for this violation is the 8 utation of the gene responsible for the activity of one of the enzymes involved in multistage heme synthesis.