Neuropsychiatric Manifestations of Acute Intermittent Porphyria – A Diagnostic Dilemma

Abstract

Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway (also called porphyrin pathway). They are broadly classified as acute (hepatic) porphyrias and cutaneous (erythropoietic) porphyrias, based on the site of the overproduction and accumulation of the porphyrins or their chemical precursors. They manifest with either neuropsychiatric complications or skin problems or occasionally both. A clinically induced and histologically identical condition is called pseudo porphyria which is characterized by normal serum and urine porphyrin levels.