Porphyria

The porphyrias are a group of inherited disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. Porphyrias can present with neuropsychiatric symptoms, and can be misdiagnosed as a primary psychiatric disorder (e.g. - anxiety disorders or psychotic disorders).

The classic triad for acute intermittent porphyria is:

1. Abdominal pain,
2. Mental status changes, and
3. Autonomic dysfunction

• Porphyrias are diseases caused by accumulation of porphyrins and porphyrin precursors owing to enzymatic deficiencies of the heme synthetic pathway.^[1]

• Barbiturates are absolutely contraindicated in patients with a history of porphyria as they may exacerbate acute intermittent porphyria or porphyria variegata by inducing the enzymes responsible for porphyrin synthesis.^[2][3]