What is Acute Intermittent Porphyria?

The porphyrias are a group of eight disorders, each of which is caused by a fault in a specific gene used to produce one of the enzymes which make haem. Although haem is made in all cells of the body, the majority is used in either the bone marrow to make haemoglobin or the liver to support metabolism. Acute intermittent porphyria (AIP) is one of three autosomal dominant acute porphyrias which results in partial deficiency of the enzyme porphobilinogen deaminase, which in certain situations can slow the production of haem in the liver and lead to a build up the precursor molecules 5-aminolaevulinic acid (ALA) and porphobilinogen (PBG). These molecules are associated with acute attacks with ALA being considered to be the most likely cause of the nervous system damage.

AIP does not cause any skin symptoms in sunlight, unlike most of the other porphyrias.

Voluntary Sector Organisations