Porphyria

Porphyrias are a group of hereditary diseases that are characterized by changes in the production or utilization of certain proteins associated with hemoglobin synthesis.

Porphyrins are a group of coenzyme proteins, such as porphobilinogen and porphobilins, that are involved in biological processes, including the formation of hemoglobin,

Porphyrias are rare hereditary metabolic diseases caused by gene mutations

Causes and consequences. Hereditary liver diseases, particularly storage diseases, are the most common causes of liver cirrhosis. Previously, such diseases included rare progressive diseases that are characterized by the accumulation of hemoglobin, porphyrins and their precursors and lead to liver dysfunction due to the toxic effect of abnormal products of the synthesis and breakdown of hemoglobin along the porphyrin chain. Currently, according to the modern international classification, storage diseases are classified as a separate group of genetic diseases of the accumulation of various metabolites. One of these classes is the group of porphyrias. By definition, this is a large group of genetic diseases caused by a deficiency of enzymes in the metabolism of uroporphyrin or hemcobalamin, as a result of which the ability to degrade heme-containing pigments in the blood decreases. Storage diseases also include hemoglobinopathies (hemoglobin disorders).

Genetic disorders of porphyriogenesis are caused by changes in structural or regulatory genes with different mutation patterns. As a rule, these are translocations. Excessive accumulation of hemoglobin-containing pigment (uroporphyrins, ezeunin, coproporphyrin, namely enzyme deficiency and decreased enzyme activity. The latter may be associated with the structural or functional inferiority of the enzyme, a change in the number of enzyme molecules in the cell, or a dysfunction and interaction of one or more enzymes. Some enzymes