Family Studies of Patients with Acute Intermittent Porphyria (AIP): Neurological, Biochemical, and Genetic Investigations

Environmental Chemical Exposures and Disturbances of Heme Synthesis

“…In contrast to the typical acute presentation, symptoms in some cases can occur nondistinctly in time and/or be relatively mild and some symptoms, particularly pain or psychiatric manifestations, can become chronic, often with variable severity over time (7,9,21). Given such complex presentations as well as the frequent paucity of physical signs, the diagnosis of porphyria can be delayed or missed entirely.…”