Porphyria

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Xu, R. Porphyria. Encyclopedia. Available online: https://encyclopedia.pub/entry/5404 (accessed on 21 September 2026).

Xu R. Porphyria. Encyclopedia. Available at: https://encyclopedia.pub/entry/5404. Accessed September 21, 2026.

Xu, Rita. "Porphyria" Encyclopedia, https://encyclopedia.pub/entry/5404 (accessed September 21, 2026).

Xu, R. (2020, December 24). Porphyria. In Encyclopedia. https://encyclopedia.pub/entry/5404

Xu, Rita. "Porphyria." Encyclopedia. Web. 24 December, 2020.

Porphyria

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/porphyria

Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).

genetic conditions

References

Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR,Desnick RJ. Recommendations for the diagnosis and treatment of the acuteporphyrias. Ann Intern Med. 2005 Mar 15;142(6):439-50. Review. Erratum in: AnnIntern Med. 2005 Aug 16;143(4):316.
Badminton MN, Elder GH. Molecular mechanisms of dominant expression inporphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review.
Chemmanur AT, Bonkovsky HL. Hepatic porphyrias: diagnosis and management. ClinLiver Dis. 2004 Nov;8(4):807-38, viii. Review.
Dombeck TA, Satonik RC. The porphyrias. Emerg Med Clin North Am. 2005Aug;23(3):885-99, x. Review.
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review.
Lecha M, Herrero C, Ozalla D. Diagnosis and treatment of the hepaticporphyrias. Dermatol Ther. 2003;16(1):65-72. Review.
Murphy GM. Diagnosis and management of the erythropoietic porphyrias. DermatolTher. 2003;16(1):57-64. Review.
Nordmann Y, Puy H. Human hereditary hepatic porphyrias. Clin Chim Acta. 2002Nov;325(1-2):17-37. Review.
Peters TJ, Sarkany R. Porphyria for the general physician. Clin Med (Lond).2005 May-Jun;5(3):275-81. Review.
Sarkany RP. Making sense of the porphyrias. Photodermatol PhotoimmunolPhotomed. 2008 Apr;24(2):102-8. doi: 10.1111/j.1600-0781.2008.00336.x. Review.
Sassa S. The porphyrias. Photodermatol Photoimmunol Photomed. 2002Apr;18(2):56-67. Review.
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, ElderGH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, MarsdenJT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. C-terminal deletions in the ALAS2gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet. 2008 Sep;83(3):408-14. doi:10.1016/j.ajhg.2008.08.003.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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