Porphyrias (in development)
Laboratory Tests with normal ranges
Clinical Tracks
Basic Science Review
Computer Assisted Diagnosis
Porphyrias are a group of inherited disorders of heme synthesis. Only one normal gene is present to produce a key functional
enzyme in heme synthesis. This results in at least a 50% of the normal enzyme activity. This reduced level of enzyme
results in a build up of precursors behind the deficient enzyme which then accumulate in body fluids and tissues.
The clinical manifestations, cutaneous lesions, neurologic dysfunction, and hepatic disease, characteristic to each type of
porphyria are due to the toxic nature of these precursor compounds.
