Oct

7

2021

How is diagnosis of acute porphyria confirmed?

By William Aird

Elevated urine porphobilinogen (PBG) confirms diagnosis in acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), or variegate porphyria (VP). PBG level is normal in the very rare ALA dehydratase deficiency porphyria (ADP). Discriminating between AIP, HCP, and VP requires additional testing.

Heme biosynthesis pathways showing the 4 enzymes (in red) responsible for acute porphyria.