Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral
Acta Med Port. 2023 Nov 2;36(11):753-764. doi: 10.20344/amp.20323. Epub 2023 Nov 2.ABSTRACTAcute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. Effective diagnostic ...
Source: Acta Medica Portuguesa - November 4, 2023 Category: General Medicine Authors: Lu ís Brito Avô Lu ísa Pereira Anabela Oliveira Filipa Ferreira Paulo Filipe In ês Coelho Rodrigues Eduarda Couto F átima Ferreira Andr é Airosa Pardal Pedro Morgado S ónia Moreira Source Type: research
