autossomal dominant disorder most commonly in Scandinavian and British descent due to deficiency of HMB-synthetase
most heterozygotes are asymptomatic unless some factor increases the production of pyrogens, usually medications
common drugs include steroids, alcohol, low calorie diets, and drugs (barbituates, sulfonamide antibiiotics, grisefulvin, and synthetic estrogens (birth-control)
attacks of abdominal pain lasting several hours is the most common symptom and may be secondary to ileus or distension, but tenderness on exam and fever are absent
peripheral neuropathy and muscle weakness improves over days, but may take years to return to normal
diagnose: gold standard test measures RBC HMB-synthetase, screening test of normal PBG (porphobilinogen) level in urine rules out the condition
treatment: narcotics, IV glucose (300g/day), and IV heme (4g/day)
