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Pathway Description
Porphyria Variegata (PV)
Homo sapiens
Disease Pathway
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
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. doi: 10.1056/NEJM198004033021401.
Pubmed: 7354807
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. doi: 10.1111/j.1445-5994.1990.tb01320.x.
Pubmed: 2222353
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. doi: 10.1093/hmg/5.3.407.
Pubmed: 8852667
Norris PG, Elder GH, Hawk JL: Homozygous variegate porphyria: a case report. Br J Dermatol. 1990 Feb;122(2):253-7. doi: 10.1111/j.1365-2133.1990.tb08272.x.
Pubmed: 2317449
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. doi: 10.1038/sj.ejhg.5200860.
Pubmed: 12357337
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
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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