- Last edited on May 13, 2021
Porphyria
Primer
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
Diagnostic Criteria
The classic triad for acute intermittent porphyria is:
- Abdominal pain,
- Mental status changes, and
- Autonomic dysfunction
Screening Tools and Scales
Pathophysiology
- Porphyrias are diseases caused by accumulation of porphyrins and porphyrin precursors owing to enzymatic deficiencies of the heme synthetic pathway.[1]