ABSTRACT
Variegate porphyria is an autosomal dominant inherited trait resulting in decreased
activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive
skin disease and a propensity to acute neuro-visceral crises. The disease is found
worldwide but has an exceptionally high frequency in South Africa. The gene for human
protoporphyrinogen oxidase has been identified and sequenced, and several mutations
in the protoporphyrinogen oxidase gene sequence have been identified. In South Africa,
fewer patients now present with acute attacks, leaving a greater proportion with skin
disease or asymptomatic disease. Acute attacks of variegate porphyria appear to be
less easily provoked and to be milder than those associated with acute intermittent
porphyria.
KEY WORDS
variegate porphyria - protoporphyrinogen oxidase - acute attack
