Porphyrias present acutely in attacks, consisting of severe abdominal pain, nausea, constipation, confusion, and seizure, and can be life-threatening. Porphyric neuropathy is manifest by symptoms and cerebrospinal fluid abnormalities resembling acute Guillain-Barré syndrome. They are a group of genetic disorders caused by mutations in enzymes of the heme biosynthesis pathway.
Mar. 18, 2021