Porphyria Variegata (PV)


Porphyria variegata (PV) is caused by a defect in the PPOX gene which codes for protoporphyrinogen oxidase. A defect in this enzyme results in accumulation of the porphyrin precursors porphobilinogen and 5-aminolevulinic acid in plasma; increase of fecal and urinary levels of porphyrin and coproporphyrin. Symtpoms include abdominal pain, vomiting, diarrhea, constipation, muscle weakness, seizures, and mental changes such as anxiety and hallucinations. Some people with variegate porphyria have skin that is overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, scarring, changes in pigmentation, and increased hair growth.

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References

  1. Uniprot: P50336
  2. OMIM: Entry 176200
  3. Brenner DA, Bloomer JR: The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. N Engl J Med. 1980 Apr 3;302(14):765-9. Pubmed
  4. Coakley J, Hawkins R, Crinis N, McManus J, Blake D, Nordmann Y, Sloan L, Connelly J: An unusual case of variegate porphyria with possible homozygous inheritance. Aust N Z J Med. 1990 Aug;20(4):587-9. Pubmed
  5. Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y: Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet. 1996 Mar;5(3):407-10. Pubmed
  6. Norris PG, Elder GH, Hawk JL: Homozygous variegate porphyria: a case report. Br J Dermatol. 1990 Feb;122(2):253-7. Pubmed
  7. von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R: Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. Eur J Hum Genet. 2002 Oct;10(10):649-57. Pubmed