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Topic: Acute intermittent porphyria

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	Porphyria - Encyclopedia, History, Geography and Biography
		Acute attacks of porphyrias in patients with autoimmune diseases such as lupus have been initially labeled as "lupus complications" delaying diagnosis of the underlying porphyria and treatment resulting in deaths.
		In nearly all cases of acute porphyria syndromes, urinary PBG is markedly elevated except for the very rare ALA dehydratase deficiency or in patients with symptoms due to lead poisoning or hereditary tyrosinemia type I.
		Porphyria has been suggested as an explanation for the origin of vampire and werewolf legends, based upon a number of similarities between the condition and the folklore that was first speculated upon by biochemist David Dolphin in 1985.
	www.arikah.com /encyclopedia/Porphyria (3481 words)

	MEDIC: CLINICAL HANDBOOK: Acute Intermittent porphyria (Site not responding. Last check: 2007-11-03)
		acute intermittent porphyria is a autosomal dominant disorder caused by a defect in porphobilinogen deaminase activity.
		Attacks of neurological dysfunction is associated with increased levels of ALA and PBG excretion in the urine with the levels dropping as the patients condition improves.
		To discriminate acute intermittent porphyria from variegate porphyria and hereditary coproporphyria which also can have increased PBG in the urine, a specific test for erythrocyte PBG deaminase activity is required.
	medic.med.uth.tmc.edu /path/00000805.htm (497 words)

	Porphyria, Acute Intermittent
		Acute Intermittent Porphyria (AIP) is one of a group of hereditary hepatic Porphyrias.
		Acute Intermittent Porphyria is inherited as an autosomal dominant disorder resulting from a deficiency of the enzyme hydroxymethylbilane synthase.
		ACUTE INTERMITTENT PORPHYRIA IN FINLAND: 19 MUTATIONS IN THE PORPHOBILINOGEN DEAMINASE GENE.
	hw.healthdialog.com /kbase/nord/nord318.htm (2495 words)

	Acute intermittent porphyria (AIP) is a disorder due to an inherited defect... (Site not responding. Last check: 2007-11-03)
		Acute intermittent porphyria (AIP) is a disorder due to an inherited defect of the haeme biosynthesis pathway and characterised by neurovisceral and neuropsychiatric manifestations, often precipitated by drugs and other exogenous factors1.
		Prevalance of acute intermittent porphyria in a Mexican psychiatric population.
		Acute intermittent porphyria: a new cause of posterior leucoencephalopathy syndrome.
	www.indegene.com /Int/FeatArt/indIntFeatArt32.html (2501 words)

	Acute Porphyria:Information for people with acute intermittent porphyria:English
		For diagnosis of an attack of acute porphyria and identification of the type of porphyria, samples of urine, blood and stools (faeces) need to be carefully tested in a laboratory that has an expertise in porphyrias (more about porphyria specialist centres).
		In a patient who is known to have inherited an acute porphyria, it may be difficult to decide whether an illness is an attack of acute porphyria or caused by something else.
		The symptoms of an attack of acute porphyria are not always easy to recognise and, if the condition is not already diagnosed, there is a risk that your doctor will use drugs that may make the attack worse or may even think that an operation is necessary.
	www.porphyria-europe.com /01-for-patients/EN/for-patients.asp (3530 words)

	BBC - Health - Conditions - Porphyria
		Porphyria is a group of diseases in which there is a disturbance in the levels of chemicals known as porphyrins.
		But in porphyria there is a deficiency of these enzymes and so the process is blocked and porphyrins (and their precursors) accumulate to toxic levels in the body.
		People with acute porphyria experience episodes of pain and disruption of the nervous system that may develop very rapidly, over several hours, and may be severe, causing a wide range of symptoms throughout the body.
	www.bbc.co.uk /health/conditions/porphyria1.shtml (1069 words)

	Acute Intermittent Porphyria - Canadian Porphyria Foundation
		This information is being sent to you by the Porphyria Foundation of Canada because you believe you may have acute intermittent porphyria (AIP).
		One of these is that acute porphyria seems to have become a problem after the introduction of manmade organic chemicals as drugs in the late 19th century.
		There are one or two accounts of acute porphyria being precipitated by exposure to sunlight; the reason for this is not understood, but sunbathing is a stress on the body which changes the secretion of some hormones, and again it would be wise to avoid this risk.
	www.cpf-inc.ca /AIP.htm (1086 words)

	Porphyria - Genetics Home Reference
		Acute intermittent porphyria is the most common form of acute porphyria in most countries.
		Mutations in the ALAD, CPOX, FECH, HMBS, PPOX, UROD, and UROS genes cause porphyria.
		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=acuteintermittentporphyria (1354 words)

	Porphyria Review
		The porphyrias are inherited or acquired disorders of specific enzymes in the heme biosynthetic pathway.
		AIP is an autosomal dominant condition resulting from the half-normal level of HMB synthase (also termed PBG deaminase) activity.
		Screening of cases not presenting with an acute attack requires a 24 hour urine collection which can be tested for aminolevulinic acid and porphobilinogen, but if normal levels are obtained, this does not exclude the possibility that you carry the gene for the condition.
	www.doctorslounge.com /hematology/diseases/porphyria.htm (613 words)

	[No title]
		Acute intermittent porphyria is a particularly severe form of porphyria which results from a deficiency of porphobilinogen deaminase.
		Acute intermittent porphyria is an autosomal dominant deficiency in porphobilinogen deaminase.
		In cases of raised porphobilinogen, as in acute intermittent porphyria, the pink precipitate is observed to be insoluble in chloroform.
	members.tripod.com /~theaipforum (3102 words)

	AllRefer Health - Porphyria (Acute Intermittent Porphyria, Congenital Erythropoietic Porphyria, Erythropoietic ...
		Porphyria is a group of inherited disorders involving abnormalities in the production of heme pigments (the base material responsible for hemoglobin (red blood cell pigment), myoglobin (reddish muscle cell pigment) and another group of materials called cytochromes.
		The porphyrias may be inherited as either autosomal dominant (caused by inheriting one abnormal copy of the gene) or autosomal recessive (requires inheritance of two abnormal genes) traits, depending on which type of porphyria is involved.
		A classical attack of acute porphyria generally begins with colicky abdominal pain (severe), and is then followed by vomiting and constipation.
	health.allrefer.com /health/porphyria-info.html (457 words)

	Facts on acute porphyria
		Acute porphyria ia a term that includes four similar inherited diseases: acute intermittent porphyria, variegate porphyria and hereditary coproporphyria, and Plumpoporphyria.
		Each type of acute porphyria is the end result of an alteration in a hereditary particle of DNA known as a gene.
		For diagnosis of an attack of acute porphyria and identification of the type of porphyria, samples of urine, blood and stools (faeces) need to be carefully tested in a laboratory that has an expertise in porphyrias.
	www.porphyria.org.uk /acute_facts.htm (3297 words)

	MedlinePlus Medical Encyclopedia: Porphyria
		Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
		Porphyrias are characterized by 3 major findings: photodermatitis (light sensitivity causing rashes), neuropsychiatric complaints, and visceral complaints (such as abdominal pain or cramping).
		The porphyrias may be inherited as either autosomal dominant (caused by inheriting 1 abnormal copy of the gene) or autosomal recessive (requires inheritance of 2 abnormal genes) traits, depending on which type of porphyria is involved.
	www.nlm.nih.gov /medlineplus/ency/article/001208.htm (508 words)

	Acute Intermittent Porphyria: Porphyrias: Merck Manual Home Edition
		Acute intermittent porphyria, which causes neurologic symptoms, is the most common acute porphyria.
		Acute intermittent porphyria occurs in people of all races but may be more common in those from Northern Europe.
		Acute intermittent porphyria is due to a deficiency of the enzyme porphobilinogen deaminase (also known as hydroxymethylbilane synthase) that leads to accumulation of the heme precursors delta-aminolevulinic acid and porphobilinogen initially in the liver.
	www.merck.com /mmhe/sec12/ch160/ch160c.html (844 words)

	Porphyria
		Acute intermittent porphyria was diagnosed by increases in urine delta-aminolevulinic acid and porphobilinogen and confirmed by reduced erythrocyte porphobilinogen deaminase activity and normal or near-normal stool porphyrins.
		We studied 245 healthy subjects, 32 patients with classical porphyria cutanea tarda (PCT), 12 patients with PCT of renal failure, 13 patients with renal failure, 8 patients with pseudoporphyria of renal failure, 3 patients with acute intermittent porphyria, 5 patients with variegate porphyria, 5 patients with hereditary coproporphyria, and 4 patients with erythropoietic protoporphyria.
		Acute myelogenous leukemia occurred in a 47-year-old woman whose 25-year history of cutaneous photosensitivity had been undiagnosed until abnormally high erythrocyte, plasma, and fecal protoporphyrin levels were discovered during evaluation for her hematologic disorder.
	www.thedoctorsdoctor.com /diseases/porphyria.htm (4979 words)

	About Porphyria: Acute Intermittent Porphyria (AIP)
		This is one of the hereditary hepatic porphyrias.
		If it is known that someone in a family has AIP and their enzyme value is low in red blood cells, other family Sponsors who have inherited a deficiency of PBGD can be identified by measuring the enzyme in their red blood cells.
		AIP patients prone to attacks should eat a normal or high carbohydrate diet and should not greatly restrict their intakes of carbohydrate and calories, even for short periods of time.
	www.porphyriafoundation.com /about_por/types/types01.html (1061 words)

	Acute Intermittent Porphyria - New Treatments, January 2, 2007
		Acute intermittent porphyria is an autosomal dominant disorder that results from an approximately 50% acute intermittent porphyria, porfiria, porphria, porphiria deficiency of PBG deaminase.
		AIP is characterized by rarity of symptoms and excess ALA and PBG before puberty, more frequent clinical expression in women, premenstrual attacks in some women, and exacerbations after the administration of sex steroid preparations.
		Acute attacks usually require hospitalization for the treatment of severe pain, nausea, and vomiting and for the administration of intravenous glucose and heme.
	www.ccspublishing.com /journals5a/acute_intermittent_porphyria.htm (591 words)

	eMedicine - Porphyria, Acute : Article Excerpt by: Richard E Frye, MD, PhD (Site not responding. Last check: 2007-11-03)
		Porphyrias are divided into acute and cutaneous categories based on their predominant symptoms.
		Patients with acute porphyrias (ie, neurovisceral porphyria) present with symptoms of abdominal pain, neuropathy, autonomic instability, and psychosis.
		Aminolevulinic acid dehydratase (ALAD) deficiency and acute intermittent porphyria (AIP) cause predominately neurovisceral symptoms, whereas congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria (EPP) cause mainly cutaneous symptoms.
	www.emedicine.com /ped/byname/porphyria-acute.htm (365 words)

	Porphyria - Diagnosis and Treatment Options at Mayo Clinic
		(Synonyms: acute intermittent porphyria (AIP), congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), ALAD porphyria (ADP), hepatoerythropoietic porphyria (HEP), hereditary coproporphyria (HCP), variegate porphyria (VP), erythropoietic protoporphyria (EPP) or protoporphyria)
		Porphyrias are often difficult to diagnose because the symptoms can be vague and similar to those of other disorders.
		Porphyria is not a single disease, but a group of metabolic disorders caused by deficiencies of enzymes involved in the production of heme.
	mayoclinic.org /porphyria (356 words)

	eMedicine - Porphyria, Acute Intermittent : Article by Thomas G DeLoughery, MD
		Background: Acute intermittent porphyria (AIP) is one of the porphyrias, a group of diseases involving defects in heme metabolism and that results in excessive secretion of porphyrins and porphyrin precursors.
		This is caused by spontaneous polymerization of porphobilinogen in the urine.
		Moore MR: The biochemistry of heme synthesis in porphyria and in the porphyrinurias.
	www.emedicine.com /MED/topic1880.htm (1795 words)

	Porphyria, Acute Intermittent
		Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by deficiency of the enzyme porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase.
		AIP is one of a group of disorders known as the porphyrias.
		In the hepatic types of porphyria, porphyrins and related substances originate in excess amounts from the liver; in the erythropoietic types, they originate mostly from the bone marrow.
	www.webmd.com /a-to-z-guides/Porphyria-Acute-Intermittent (694 words)

	MEDIC: CLINICAL HANDBOOK: Variegate porphyria (Site not responding. Last check: 2007-11-03)
		Variegate porphyria is an autosomal dominant disorder which is considered to be less common than acute intermittent porphyria in the U.S. The disorder has either cutaneous or neurological manifestations or both.
		The acute attacks of neurological dysfunction present the same as the manifestations described in acute intermittent porphyria.
		The distinction of acute intermittent porphyria, coproporphyria, and variegate porphyria is not critical to care since prophylaxis and treatment of the acute attack are managed the same.
	medic.med.uth.tmc.edu /path/00000808.htm (203 words)

	Porphyria at AllExperts
		* acute intermittent porphyria (AIP): a deficiency in HMB synthase
		* variegate porphyria (VP): a deficiency in PROTO oxidase
		In the early 1950's patients with porphyrias and severe symptoms of depression or catatonia were treated with electroshock.
	en.allexperts.com /e/p/po/porphyria.htm (3545 words)

	AIP - Acute Intermittent Porphyria
		AIP http://www.uq.edu.au/porphyria/ is the most difficult of the porphyrias to diagnose.
		Muscle weakness may occur during a severe attack due to the fact that all symptoms of AIP appear to result from effects on peripheral nerves, the nerves in the abdomen, or the central nervous system.
		These are most common on the trunk of the body and usually caused by all the stress from the spasms in the abdominal area.
	www.suite101.com /article.cfm/porphyria/58996 (490 words)

	health.iafrica.com \| doc online \| ask the doctor \| general medical Acute intermittent porphyria (Site not responding. Last check: 2007-11-03)
		Acute intermittent porphyria (AIP) is an inherited disease, caused by a defect in one of the enzymes (PGB deaminase) controlling the manufacture of heme, which is a component of red blood cells.
		AIP is the most common of the genetic porphyrias.
		Acute attacks can be accompanied by seizures, particularly in patients who have been vomiting.
	health.iafrica.com /doconline/qa/general/aiporphyria.htm (566 words)

	Acute Intermittent Porphyria (AIP) (Site not responding. Last check: 2007-11-03)
		AIP is an inherited condition and is passed on from generation to generation.
		You cannot be blamed for having porphyria or for passing it on to your children!
		People with AIP are at risk of developing the acute attack, and you should now read the section The Acute Attack on this web site.
	members.tripod.com /fevredream/porphyria2.html (182 words)

	About Porphyria: The Glucose Effect in the Acute Porphyrias
		The disorders Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and ALAD porphyria (ADP) are treated initially with the administration of carbohydrate/glucose.
		Most patients are knowledgeable about the deleterious affect the wrong drug can have on their bodies and are consequently careful about the medication they ingest, but some do not understand the importance of carbohydrates for prevention and treatment of a porphyria attack.
		When The Dr. Atkin's Diet, which was a high protein/low carbohydrate diet, became popular a number of years ago, many porphyria patients who adhered to this diet became ill. It soon became apparent that their severely reduced daily carbohydrate count exacerbated their porphyria.
	www.porphyriafoundation.com /about_por/special/special02.html (306 words)

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