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).

Epidemiology
Prognosis
Comorbidity
Risk Factors

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]
Articles
Research