Porphyria

Genetic disorder.

Mutation in the metabolic heme biosynthesis pathway.

The prophyrin group fails to undergo further conversion and is not incorporated into the heme group during hemosynthesis.

Manifestations:

  • reddish urine color as  porphyrin builds up in the body and is excreted in urine.
  • abdominal pain as excess porphyrin groups build up in tissues
  • mental confusion and delirium as porphyrin groups build up to toxic levels in the body impairing mental processing.
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