Porphyric neuropathy

Abstract

Porphyric neuropathy often poses a diagnostic dilemma; it is typically associated with the hepatic porphyrias, characterized by acute life-threatening attacks of neurovisceral symptoms that mimic a range of acute medical and psychiatric conditions. The development of acute neurovisceral attacks is responsive to environmental factors, including drugs, hormones, and diet. This chapter reviews the clinical manifestations, genetics, pathophysiology, and mechanisms of neurotoxicity of the acute hepatic porphyrias. While the etiology of the neurological manifestations in the acute porphyrias remains undefined, the main hypotheses include toxicity of porphyrin precursors and deficiency of heme synthesis. These hypotheses will be discussed with reference to novel experimental models of porphyric neuropathy.

Keywords: acute intermittent porphyria; heme; inward rectification (Ih); ischemia; nerve excitability.