title: Purple pigments: the pathophysiology of acute porphyric neuropathy.
abstract: The porphyrias are inherited metabolic disorders arising from disturbance in the haem biosynthesis pathway. The neuropathy associated with acute intermittent porphyria (AIP) occurs due to mutation involving the enzyme porphobilinogen deaminase (PBGD) and is characterised by motor-predominant features. Definitive diagnosis often encompasses a combination of biochemical, enzyme analysis and genetic testing, with clinical neurophysiological findings of a predominantly motor axonal neuropathy. Symptomatic and supportive treatment are the mainstays during an acute attack. If administered early, intravenous haemin may prevent progression of neuropathy. While the pathophysiology of AIP neuropathy remains unclear, axonal dysfunction appears intrinsically linked to the effects of neural energy deficits acquired through haem deficiency coupled to the neurotoxic effects of porphyrin precursors. The present review will provide an overview of AIP neuropathy, including discussion of recent advances in understanding developed through neurophysiological approaches that have further delineated the pathophysiology of axonal degeneration.
authors.affiliation: School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia. C.lin@unsw.edu.au
authors.forename: Cindy S-Y
authors.initials: CS
authors.lastname: Lin
authors.forename: Ming-Jen
authors.initials: MJ
authors.lastname: Lee
authors.forename: Susanna B
authors.initials: SB
authors.lastname: Park
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Kiernan
mesh_terms: D000818:Animals; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics / Q000378:metabolism; D051379:Mice; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D010860:Pigments, Biological / Q000378:metabolism*; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*
chemical_list: D010860:Pigments, Biological; D006418:Heme; D011163:Hydroxymethylbilane Synthase