Article
Purple pigments: the pathophysiology of acute porphyric neuropathy.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Dec 2011
Lin Cindy S-Y, Lee Ming-Jen, Park Susanna B, Kiernan Matthew C
Abstract excerpt
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...
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