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Topic: Hereditary coproporphyria

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	eMedicine - Porphyria, Hereditary Coproporphyria : Article Excerpt by: Thomas G DeLoughery, MD
		Background: Coproporphyria is one of the porphyrias, a group of diseases that involves defects in heme metabolism and that results in excessive secretion of porphyrins and porphyrin precursors.
		Pathophysiology: Coproporphyria is an autosomal dominant disease that results from defects in the enzyme coproporphyrinogen oxidase.
		In coproporphyria, skin disease also is present but not as commonly as the neurovisceral symptoms.
	www.emedicine.com /med/byname/porphyria-hereditary-coproporphyria.htm (329 words)

	CPOX - coproporphyrinogen oxidase
		CONCLUSION: The hereditary coproporphyria is caused by a new mutation in the coproporphyrinogen oxidase gene in the case of a dual porphyria with co-existence of porphyria cutanea tarda and hereditary coproporphyria.
		Hereditary coproporphyria is a dominantly inherited disorder of porphyrin metabolism caused by a partial deficiency of coproporphyrinogen oxidase, the sixth enzyme in the heme synthetic pathway.
		Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase.
	www.ihop-net.org /UniPub/iHOP/gi/87406.html (1809 words)

	Hereditary coproporphyria Treatment and Symptoms
		Coproporphyria, Hereditary; Coproporphyrinogen oxidase deficiency; CPO deficiency; CPRO deficiency; CPX deficiency; HCP
		Hereditary coproporphyria is a rare type of porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin.
		The signs and symptoms of hereditary coproporphyria are similar to those of acute intermittent porphyria, but attacks of acute symptoms tend to be less severe.
	goldbamboo.com /topic-t6868.html (407 words)

	Encyclopedia (Site not responding. Last check: 2007-10-26)
		In South Africa the prevalent form of the disease is variegate porphyria, with a possible incidence of 1 in 1000 in the white population, whilst the Bantu population suffers mainly from porphyria cutanea tarda.
		The acute porphyrias (acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria), and occasionally plumboporphyria, present with intermittent attacks of neurovisceral dysfunction, which may be precipitated by various drugs and other exogenous factors.
		The underlying defect in variegate porphyria is deficiency of protoporphyrinogen oxidase activity and in hereditary coproporphyria it is deficiency of coproporphyrinogen oxidase activity.
	www.eamg-med.com /members/encyclopedia/11/11_5.shtml (6283 words)

	Medical Dictionary: Hereditary coproporphyria (subtype) - WrongDiagnosis.com
		Hereditary coproporphyria (subtype) is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Hereditary coproporphyria (subtype), or a subtype of Hereditary coproporphyria (subtype), affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Hereditary coproporphyria (subtype):
	www.wrongdiagnosis.com /medical/hereditary_coproporphyria_subtype_.htm (213 words)

	CIGNA - Porphyria, Hereditary Coproporphyria
		Hereditary Coproporphyria is a genetic, non-x-linked disorder inherited as an autosomal dominant trait.
		Hereditary Coproporphyria may have its onset at any age, and may affect males and females in equal numbers.
		Congenital Erythropoietic Porphyria (CEP) is a hereditary disorder due to an inborn error of metabolism, and manifested in infancy.
	www.cigna.com /healthinfo/nord323.html (1877 words)

	eMedicine - Porphyria, Hereditary Coproporphyria : Article by Thomas G DeLoughery, MD
		Causes: Like AIP, coproporphyria is due to a combination of a genetic enzyme defect and acquired causes that become symptomatic in rare cases.
		Physicians establish the diagnosis of coproporphyria by demonstrating excess secretion of coproporphyrins in the stool.
		Although coproporphyria is caused by a defective enzyme, there is little use in measuring the activity of coproporphyrinogen oxidase.
	www.emedicine.com /MED/topic1888.htm (2053 words)

	Hereditary Coproporphyria - Canadian Porphyria Foundation
		Hereditary coproporphyria (HCP) is rare in all parts of the world and less is know about it than about some of the other porphyrias.
		The name hereditary coproporphyria is used simply because it describes a laboratory finding in an inherited condition.
		In hereditary coproporphyria the commonest situation is for neither skin problems nor acute attacks to occur, but either or both can occur in any one patient.
	www.cpf-inc.ca /HCP.htm (1158 words)

	More on Hereditary
		Here is free textual content related to Hereditary to utilize on your web site in accordance wi th the GNU license.
		Heredity (the adjective is hereditary) is the transfer of characters from parent to offspring, either through their genes or through the social institution called inheritance (for example, a title of nobility is passed from individual to individual according to relevant customs and/or laws).
		Charles Darwin proposed a theory of evolution in 1859 and one of its major problems was a lack of coherent hereditary mechanism.
	www.psyhist.com /hereditary.htm (529 words)

	Porphyrias (Site not responding. Last check: 2007-10-26)
		Porphyrias, Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; and Erythropoietic protoporphyria.
		Variegate Porphria and Hereditary Coproporphyria - both disorders are due to the autosomal dominant transmaission of mutant alleles resulting in enzymes that are deficient.
		Acute Intermittent Porphyria and Variegate Porphria and Hereditary Coproporphyria
	www.virtualcancercentre.com /diseases.asp?did=232 (761 words)

	Vol2.
		Hereditary Coproporphyria is also known as HCP, Porphyria Hepatica, and Coproporphyria.
		Hereditary Coproporphyria is an autosomal dominant form of hepatic porphyria that is very similar to Acute Intermittent Porphyria.
		Hereditary Coproporphyria is caused by an enzyme deficiency.
	members.tripod.com /~PorphBook/vol2_40.html (336 words)

	Hereditary coproporphyria -
		hereditary coproporphyria (HCP): a deficiency in COPRO oxidase
		Variegate porphyria (also hereditary coproporphyria porphyria variegata or mixed porphyria) results from a partial deficiency in PROTO oxidase, manifesting itself with skin lesions similar to those of porphyria cutanea tarda combined with acute neurologic attacks.
		Recent research has shown that porphyria is another hereditary disease plaguing the British royal family (besides hemophilia), apparently from the line of the monarchs of Scotland.
	www.medicalgeo.com /Med-Diseases-H---Hi/Hereditary-coproporphyria.html (1080 words)

	Researchers reveal basis for hereditary coproporphyria (Site not responding. Last check: 2007-10-26)
		"Unless prompt and appropriate treatment is given, hereditary coproporphyria can very quickly turn into a life-threatening medical emergency," said C. Raman, Ph.D., assistant professor in the Department of Biochemistry and Molecular Biology and senior author of a paper out this week in the Proceedings of the National Academy of Sciences.
		Hereditary coproporphyria is rare, affecting two in every million people, "but rare diseases give you major insights into extremely complex biological problems."
		In the case of hereditary coproporphyria, inherited mutations in CPO result in accumulation of coproporphyrin in the liver, leading to disease.
	www.news-medical.net /?id=13630 (615 words)

	Porphyria - Genetics Home Reference
		Forms of porphyria include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria.
		Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, have a combination of acute symptoms and symptoms that affect the skin.
		Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to reduce enzyme activity and increase the risk of developing signs and symptoms.
	ghr.nlm.nih.gov /condition=porphyria (1354 words)

	Dr. Koop - Disease Reference
		Hereditary sensory and autonomic neuropathy - type III
		The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
		You should promptly seek professional medical care if you have any concern about your health, and you should always consult your physician before starting a fitness regimen.
	www.drkoop.com /ency/93/diseidxh.html (164 words)

	GENETIC DISORDERS - Hereditary Coproporphyria
		It is a component of haemoglobin, the molecule that carries oxygen in the blood.
		In about 30 percent of people with hereditary coproporphyria, the skin is overly sensitive to sunlight.
		The combination of this increased demand and reduced activity of coproporphyrinogen oxidase disrupts haeme production and allows byproducts of the process to accumulate in the liver, triggering an acute attack.
	www.medic8.com /genetics/hereditary-coproporphyria.htm (575 words)

	Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism -- Takeuchi et al. 98 (13): 3871 -- Blood (Site not responding. Last check: 2007-10-26)
		The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have
		Hereditary coproporphyria (HCP) is a hereditary autosomal-dominant disease of heme biosynthesis resulting from a partial deficiency
		Martasek P, Nordmann Y, Grandchamp B. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
	www.bloodjournal.org /cgi/content/full/98/13/3871 (1544 words)

	ScienceDaily: Researchers Reveal Basis For Debilitating Hereditary Disease
		Hereditary coproporphyria is rare, affecting two in everymillion people, "but rare diseases give you major insights intoextremely complex biological problems."
		In the case of hereditary coproporphyria,inherited mutations in CPO result in accumulation of coproporphyrin inthe liver, leading to disease.
		Gene therapy -- Gene therapy is the insertion of genes into an individual's cells and tissues to treat a disease, and hereditary diseases in particular.
	www.sciencedaily.com /releases/2005/10/051008203235.htm (1787 words)

	Porphyria, Hereditary Coproporphyria - Providence Health System
		It is possible that the main title of the report Porphyria, Hereditary Coproporphyria is not the name you expected.
		Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
		Hereditary Coproporphyria is an autosomal dominant form of hepatic porphyria that is very similar to Acute Intermittent Porphyria, although it is usually a less severe disease.
	www.providence.org /healthlibrary/contentViewer.aspx?hwid=nord323&serviceArea=generic (568 words)

	eMedicine - Porphyria, Hereditary Coproporphyria : Article by Thomas G DeLoughery, MD
		Pain of short duration (minutes) or chronic abdominal pain does not develop in coproporphyria.
		Stool coproporphyrins are markedly elevated, usually 10-200 times greater than control samples.
		Researchers consider coproporphyria a less severe disease than AIP.
	www.emedicine.com /med/topic1888.htm (2053 words)

	MedlinePlus Medical Encyclopedia: Topics beginning with H-Hf
		Hepatitis D virus see Delta agent (Hepatitis D)
		Hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
		Hereditary sensory and autonomic neuropathy - type III see Riley-Day syndrome
	www.nlm.nih.gov /medlineplus/ency/encyclopedia_H-Hf.htm (545 words)

	Alphabetical List of Diseases, Treatments and Services at Mayo Clinic (Site not responding. Last check: 2007-10-26)
		Hardening Of The Arteries (See Peripheral Vascular Disease)
		Hereditary Focal Segmental Glomerulosclerosis (See Familial Focal Segmental Glomerulosclerosis)
		Herniation Of The Cerebellar Tonsils (See Chiari Malformation)
	www.mayoclinic.org /patientinfo/alphalist-hh.html (113 words)

	INDOlink - News & Analysis - C. S. Raman’s Research Reveals Basis for Hereditary Disease
		Raman at The University of Texas Medical School at Houston has determined the structure of an enzyme that when defective causes an inherited disease that afflicts sufferers with severe abdominal pain, psychiatric symptoms, skin fragility, and light sensitivity.
		“Unless prompt and appropriate treatment is given, hereditary coproporphyria can very quickly turn into a life-threatening medical emergency,” said Raman, assistant professor in the Department of Biochemistry and Molecular Biology and senior author of a paper out this week in the Proceedings of the National Academy of Sciences.
		Hereditary coproporphyria is rare, affecting two in every million people, “but rare diseases give you major insights into extremely complex biological problems.” Porphyrias are disorders of enzymes in the heme synthesis pathway that reduce heme production and, more importantly, cause accumulation of porphyrins or their precursors, Raman explained.
	www.indolink.com /displayArticleS.php?id=101005074506 (652 words)

	hereditary coproporphyria - General Practice Notebook (Site not responding. Last check: 2007-10-26)
		Hereditary coproporphyria is an autosomal dominant deficiency of coproporphyrinogen oxidase (chromosome 9) in white blood cells, liver and other cells.
		It is very rare and may present at any age.
		Oxbridge Solutions Ltd® is an independent company owned by the authors which does not receive income from any other organisation or individual.
	www.gpnotebook.co.uk /cache/1637482504.htm (147 words)

	Hereditary coproporphyria: incidence in a large English family -- Andrews et al. 21 (5): 341 -- Journal of Medical ...
		Hereditary coproporphyria: incidence in a large English family -- Andrews et al.
		Hereditary coproporphyria: incidence in a large English family
		In a family inheriting the hereditary coproporphyria (HCP) gene, where 414
	jmg.bmjjournals.com /cgi/content/abstract/21/5/341 (232 words)

	My Porphyria Page
		This is the question I asked when told I have Hereditary Coproporphyria.
		My doctors response was basically.."It's a hereditary disease and there is no cure.
		Porphyria is not a single disease but is a group of at least eight
	phadwin.oldsgmail.com /porph.htm (682 words)

	Induction of anaesthesia with ketamine during an acute crisis of hereditary coproporphyria -- Capouet et al. 34 (4): ...
		Induction of anaesthesia with ketamine during an acute crisis of hereditary coproporphyria -- Capouet et al.
		Induction of anaesthesia with ketamine during an acute crisis of hereditary coproporphyria
		signs of an acute crisis of hereditary coproporphyria.
	www.cja-jca.org /cgi/content/abstract/34/4/388 (128 words)

	UniProtKB/Swiss-Prot entry P36551 [HEM6_HUMAN] Coproporphyrinogen III oxidase, mitochondrial (Site not responding. Last check: 2007-10-26)
		Schreiber W.E. Zhang X. Senz J. Jamani A. "Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.";
		Wiman A. Floderus Y. Harper P. "Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.";
		HCP is an acute hepatic porphyria and an autosomal dominant disease characterized by neuropsychiatric disturbances and skin photosensitivity.
	www.expasy.org /uniprot/P36551 (745 words)

	Pat's Treefrog and Porphyria Page
		This page is dedicated to my collection of Frogs and a disease that I have - Hereditary Coproporphyria.
		Porphyria is not a single disease but is a group of at least eight disorders that differ considerably from each other.
		The types are ALAD-Deficiency Porphyria or ADP, Acute Intermittent Porphyria or AIP, Congenital Erthropietic Porphyria or CEP, Porphyria Cutanea Tarda or PCT, Hepatoerythropoietic Porphyria or HEP, Hereditary Coproporphyria or HCP, Variegate Porphyria or VP, Erythropoietic Protoporphyria or EEP.
	members.tripod.com /~SuperOlds/Froggy.html (445 words)

	About Porphyria: Acute Intermittent Porphyria (AIP)
		Urine can have this appearance during an attack or upon standing in the light.
		This is one of the hereditary hepatic porphyrias.
		The deficient enzyme is porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase.
	www.porphyriafoundation.com /about_por/types/types01.html (1067 words)

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