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    Pathway Description
      Porphyria Variegata (PV)
Rattus norvegicus
            Category:
                Metabolite Pathway
                Sub-Category:
                Disease
            Created: 2018-09-10
          Last Updated: 2019-09-15
        
          Porphyria variegata (PV) is a rare inborn error of metabolism (IEM) which arises from a defective gene called PPOX. PPOX is responsible for protoporphyrinogen oxidase. A defect in this enzyme results in the build up of several compounds, including porphobilinogen, 5-aminolevulinic acid, and in feces and urine, porphyrin and coproporphyrin. Of the wide range of symptoms which present themselves in affected individuals, some include abdominal pain, vomiting, and diarrhea. As well as seizures, hallucinations and skin sensitivity to light. Indeed, the skin sensitivity can be so extreme that skin pigmentation changes, scarring and blistering and even hair growth can ensue on exposed areas.
        
      References
      
        Porphyria Variegata (PV) References
Hofmann C, Schmidt D, Braun-Falco O: [Porphyria variegata (author's transl)]. MMW Munch Med Wochenschr. 1975 Dec 12;117(50):1969-74.
                    Pubmed: 814414
                Porphyrin Metabolism References
Romana M, Le Boulch P, Romeo PH: Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase. Nucleic Acids Res. 1987 Sep 11;15(17):7211. doi: 10.1093/nar/15.17.7211.
                  Pubmed: 3658690
              This pathway was propagated using PathWhiz - 
                  Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
              
              Propagated from SMP0000346
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