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Pathway Description
Hereditary Coproporphyria (HCP)
Homo sapiens
Disease Pathway
Hereditary coproporphyria (HCP) is a rare inborn error of metabolism (IEM) which arises from a defective gene called CPOX. This gene is responsible for mitochondrial coproporphyrinogen-III oxidase. A defect in this enzyme results in accumulation of the porphyrin precursors porphobilinogen and 5-aminolevulinic acid; increase of fecal and urinary excreation of coproporphyrins. Symptoms for this condition vary substantially, with anything from reddish-purple urine, to bouts of acute abdominal and nerve pain, to episodes of photosensitive skin eruptions so extreme that the induced scratching often leads to permanent scarring. At the present time the condition has no cure. The following are some measures which are designed to help prevent and/or regulate the above and more symptoms: a diet which is high in carbohydrates and sugars, and a balanced lifestyle which abstains from alcohol and drug use.
References
Hereditary Coproporphyria (HCP) References
[Uniprot: P36551](http://www.uniprot.org/uniprot/P36551)
[OMIM: Entry 121300](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121300)
Andrews J, Erdjument H, Nicholson DC: Hereditary coproporphyria: incidence in a large English family. J Med Genet. 1984 Oct;21(5):341-9.
Pubmed: 6502649
Barohn RJ, Sanchez JA, Anderson KE: Acute peripheral neuropathy due to hereditary coproporphyria. Muscle Nerve. 1994 Jul;17(7):793-9. doi: 10.1002/mus.880170715.
Pubmed: 8008008
Gross U, Puy H, Meissauer U, Lamoril J, Deybach JC, Doss M, Nordmann Y, Doss MO: A molecular, enzymatic and clinical study in a family with hereditary coproporphyria. J Inherit Metab Dis. 2002 Aug;25(4):279-86.
Pubmed: 12227458
Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y: A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum Mol Genet. 1995 Feb;4(2):275-8.
Pubmed: 7757079
Bissell DM, Wang B, Lai J: Hereditary Coproporphyria
Pubmed: 23236641
Porphyrin Metabolism References
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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