Porphyria

A new disease profile is added to our database – porphyria. Porphyria are inherited disorders, each involving a specific enzyme in the heme biosynthetic pathway. These disorders are classified as either hepatic or erythropoietic depending on the primary site of overproduction and accumulation of the porphyrin precursor or porphyrin, although some have overlapping features. Most heterozygotes remain clinically asymptomatic (latent) unless exposed to factors that increase the production of porphyrins. Endogenous and exogenous gonadal steroids, porphyrinogenic drugs, alcohol ingestion, and low-calorie diets, usually instituted. Attacks also can be provoked by infections and surgery. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in internal diseases – Dr. Nikolay Botushanov, MD.