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.
- 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.