engleză
The porphyrias are a heterogeneous group of metabolic disorders caused by an inherited (sometimes acquired) enzyme deficiency in the metabolic pathway of heme biosynthesis, in which specific accumulation patterns of heme precursors are associated with clinical presentation. A Bibliographic Review was carried out taking into account the scientific literature in Spanish and English, using the databases Scielo, PubMed, Scopus. Approximately 56 articles were consulted, of which 20 were selected according to the academic criteria of the Cuban School of Medicine, of which 50% were updated. The information was analyzed and integrated. It is concluded that the porfirias comprise a group of genetic disorders in the biosynthesis of the heme group, with neurovisceral manifestations that simulate many other medical conditions. Lack of clinical recognition and delay in diagnosis delays specific treatment, leading to increased morbidity and mortality.
