1. Porphyrias: Clinical Manifestations, Diagnosis And Treatment MEDSTUDENTS-METABOL Clinical manifestations, diagnosis, etiology and treatment of six types of porphyriasare rapidly discussed. This is a distinct picture from other porphyrias. http://www.medstudents.com.br/metdis/metdis3.htm

METABOLIC DISORDERS Medstudents' Homepage Porphyrias: Clinical Manifestations, Diagnosis and Treatment Definition Porphyrias are inherited or adquired diseases that result from an abnormal metabolism of heme biosynthesis pathway. The main causes are enzyme deficiencies that lead to heme pathways intermediates accumulation. Heme biosynthesis occurs almost entirely in the liver and bone marrow and is composed by eight reactions, each one of these being catalyzed by an especific enzyme. Therefore, partial or complete deficiency of one of these enzymes result in diferents clinical pictures. We will focus our discussion mainly on clinical grounds. Classification There are two major groups of porhyrias according to the site where dysfunction occurs, i.e, hepatic and erythropoietic porphyrias. Among erythropoietic types, there are: Congenital Erythropoietic Porphyria and Protoporphyria. Hepatic porphyrias are: Intermitent Acute Porphyria, Hereditary Coproporphyria, Variegate Porphyria and Porphyria Cutanea Tarda. It is important to recognize that the three most common types of porphyrias are Intermitent Acute Porphyria (IAP), Porphyria Cutanea Tarda (PCT) and Protoporphyria (PP). Clinical Manifestations and Diagnosis Intermitent Acute Porphyria: The majority of patients are assymptomatic. Signs and symptoms rarely start before puberty. The initial and commonest manifestation is abdominal pain, which can be diffuse or localized, colicky. The clinical picture may mimic an accute inflammatory abdominal disease. It is caused by an altered autonomic activity. Peripheral neuropathy is primarily motor, beginning in proximal muscles, more often in the arms. Cranial nerves manifestations my lead to optic nerve atrophy. CNS abnormalities include seizures, delirium and coma. Hepatic dysfunctions are common. Precipitating factors are drugs as barbiturates, sulfonamides, estrogens and dietary restriction of carbohydrates. Diagnosis is made on clinical grounds and increased erythrocytic and urinary porphobilinogen and aminolevolinic acid (ALA) levels (metabolic intermediates of heme).

2. MEDIC: CLINICAL HANDBOOK Introduction. Types of porphyrias. Laboratory Diagnosis Summary porphyrias are a group of inherited disorders of heme synthesis http://medic.med.uth.tmc.edu/path/00000884.htm

Porphyrias (in development) Introduction Types of Porphyrias Laboratory Diagnosis Summary Laboratory Tests with normal ranges Clinical Tracks Basic Science Review Computer Assisted Diagnosis Introduction Porphyrias are a group of inherited disorders of heme synthesis. Only one normal gene is present to produce a key functional enzyme in heme synthesis. This results in at least a 50% of the normal enzyme activity. This reduced level of enzyme results in a build up of precursors behind the deficient enzyme which then accumulate in body fluids and tissues. The clinical manifestations, cutaneous lesions, neurologic dysfunction, and hepatic disease, characteristic to each type of porphyria are due to the toxic nature of these precursor compounds. delta - Aminolevulinic Acid (ALA) dehydrase deficiency Acute Intermittent porphyria Congenital erythropoietic porphyria Porphyria cutanea tarda Hepatoerythropoietic porphyria ... Protoporphyria Laboratory Diagnosis Summary

3. MedlinePlus Medical Encyclopedia: Porphyria porphyrias are characterized by three major findings photodermatitis (light sensitivity causing rashes The porphyrias may be inherited as either autosomal dominant (caused by http://www.nlm.nih.gov/medlineplus/ency/article/001208.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Porphyria Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Porphyria cutanea tarda on the hands Alternative names Return to top Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria Definition Return to top 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. Porphyrias are characterized by three major findings: photodermatitis ( light sensitivity causing rashes ), neuropsychiatric complaints, and visceral complaints (such as abdominal pain or cramping). Causes, incidence, and risk factors Return to top 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. Some types of porphyria begin in early childhood, some at puberty, and others begin during adulthood. A classical attack of acute porphyria generally begins with colicky abdominal pain (severe), and is then followed by

4. Hematology And Medical Oncology At Oregon Health & Science University An article by Thomas G. DeLoughery, Associate Professor of Medicine. http://www.ohsu.edu/som-hemonc/handouts/deloughery/por.shtml

General About the Division In the News Lance Armstrong Foundation For Patients General Information Helpful Links Clinical Trials Clinics Hem Onc BMT/Leukemia Prostate Heinrich/Corless Laboratories For Health Professionals Conferences Faculty Information Career Opportunities Fellowship Program Current Internal Pages Medical Oncology "The disease of cancer will be banished from life by calm, unhurrying, persistent men and women, working with every shiver of feeling controlled and suppressed in hospitals and laboratories, and the motive that will conquer cancer will not be pity or horror; it will be curiosity to know how and why." H.G. Wells, 1901 is dedicated to the study and treatment of cancer and disorders of the blood in adults. About the Division Clinics Hematological Malignancies Hematology / Oncology Hem Onc in the News Conferences / Grand Rounds Physician Career Opportunities Heinrich and Corless Laboratories Physician Resource Page - (Hem Onc faculty and staff only) Clinical Trials Helpful Links for Patients and Physi cians Faculty Information Internal pages (intranet access only) Lance Armstrong Foundation

5. Porphyrias porphyrias. porphyrias (pronounce) may be divided into two major types. Erythropoietic porphyria is a defect of porphyrin metabolism of bloodproducing tissues. Hepatic porphyria is a defect in porphyrin metabolism of the liver. http://www-medlib.med.utah.edu/NetBiochem/hi6.htm

Porphyrias Porphyrias (pronounce) may be divided into two major types. Erythropoietic porphyria is a defect of porphyrin metabolism of blood-producing tissues. Hepatic porphyria is a defect in porphyrin metabolism of the liver. Either type may be hereditary (caused by a gene defect) or acquired (due,say, to poisoning). The symptoms of porphyria cannot be completely explained by our current understanding of the biochemical defect. In all cases there is an identifiable abnormality of the enzymes which synthesize heme. This leads to accumulation of intermediates of the pathway and a deficiency of heme Accumulation of porphyrinogens in the skin can lead to photosensitivity The neurological symptoms cannot be explained. They are especially puzzling since the metabolic defect is confined to non-neural tissue, and no known diffusible intermediate can cause the observed neurological symptoms. Two examples of porphyria will serve to illustrate some of the biochemical issues involved. Return to Main Menu jb Last modified 1/5/95

6. Porphyrias: Clinical Manifestations, Diagnosis And Treatment MEDSTUDENTS-METABOL METABOLIC DISORDERS. Bernardo Haddock Lobo Goulart Samanta Teixeira Basto.Medstudents Homepage. Hemochromatosis. Definition. Hemochromatosis http://www.medstudents.com.br/metdis/metdis4.htm

METABOLIC DISORDERS Medstudents' Homepage Hemochromatosis Definition Hemochromatosis is a disease due to increased iron absorption that leads to accumulation of iron in diverse tissues. Classification It can be hereditary (primary hemochromatosis) or secondary to chronic anemias as ß-thalassemias (ineffective erythropoiesis leading to increased erythrocitic destruction) or defects in hemoglobin synthesis ( as in porphyria cutanea tarda) ;multiple transfusion therapy ;or others less common conditions. Pathogenesis Iron absorption from the gut occurs normally in a rate of 1 mg per day. In hemochromatosis this absortion reaches the rate of 4 to 5 mg/d and there is a progressive accumulation to 15 to 40 grams of body iron (normal ~ 2 to 3 g). Thus, the disease develops in men above age 20 and postmenopausal women, due to stopping in iron loss in menses. The iron accumulates in every tissue of the body, but main clinical manifestations are secondary to iron deposition in: Liver, thyroid, hypothalamus, heart, pancreas, gonads and joints. Clinical Manifestations Many patients are asymptomatic. Common symptoms are fatigue, arthalgias, impotence, amenorrhea and palpitations. The most characteristical clinical manifestation occur in the liver because the portal circulation filters the iron initially absorbed fom the gut. Usually patients develop cirrhosis. Heart manifestations include arrythmias and disturbances of conduction. Skin adquires an diffuse hyperpigmentation mainly in scars, sun exposed and unexposed areas and genitalia. Arthropathy occurs in wrists, hips, knees and ankles. To distinguish this arthopathy from others, searching for initial involvement of second and third metacarpophalangeal joints is helpful. Hypogonadism hipogonadothrofic is secondary to iron deposition in hypophisary cells and leads to loss of libido, amenorrhea, impotence and body hair losing. Diabetes Mellitus results from pancreatic accomitment and the signs and symptons, as the treatment, do not differ from conventional diabetes.

7. Porphyrias MAIN SEARCH INDEX. porphyrias. of that specific precursor. This situationis the main characteristic of the porphyrias. Owing to a http://www.ehendrick.org/healthy/001095.htm

MAIN SEARCH INDEX Porphyrias Definition Description Causes and symptoms Diagnosis ... Resources Definition The porphyrias are disorders in which the body produces too much porphyrin and insufficient heme (an iron-containing nonprotein portion of the hemoglobin molecule). Porphyrin is a foundation structure for heme and certain enzymes. Excess porphyrins are excreted as waste in the urine and stool. Overproduction and overexcretion of porphyrins causes low, unhealthy levels of heme and certain important enzymes, creating various physical symptoms. Description Biosynthesis of heme is a multistep process that begins with simple molecules and ends with a large, complex heme molecule. Each step of the chemical pathway is directed by its own task-specific protein, called an enzyme. As a heme precursor molecule moves through each step, an enzyme modifies the precursor in some way. If a precursor molecule is not modified, it cannot proceed to the next step, causing a buildup of that specific precursor. This situation is the main characteristic of the porphyrias. Owing to a defect in one of the enzymes of the heme biosynthesis pathway, protoporphyrins or porphyrins (heme precursors) are prevented from proceeding further along the pathway. These precursors accumulate at the stage of the enzyme defect causing an array of physical symptoms in an affected person. Specific symptoms depend on the point at which heme biosynthesis is blocked and which precursors accumulate. In general, the porphyrias primarily affect the skin and the nervous system. Symptoms can be debilitating or life threatening in some cases. Porphyria is most commonly an inherited condition. It can also, however, be acquired after exposure to poisonous substances.

8. EPP Frames Short for Erythropoetic ProtoPorhyria, which is a rare metabolic disease. A personal site about this disorder, one of the family of porphyrias. http://members.tripod.com/~Alzuko/epp.htm

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9. Porphyrias . Causes and symptoms. Diagnosis. Treatment. Alternative treatment. Prognosis. Prevention. Key Terms. Resources. Definition The porphyrias are disorders in which the body produces too much porphyrin and insufficient heme (an ironcontaining As with all porphyrias, it is an uncommon ailment......porphyrias. Definition. http://www.ehendrick.com/healthy/001095.htm

MAIN SEARCH INDEX Porphyrias Definition Description Causes and symptoms Diagnosis ... Resources Definition The porphyrias are disorders in which the body produces too much porphyrin and insufficient heme (an iron-containing nonprotein portion of the hemoglobin molecule). Porphyrin is a foundation structure for heme and certain enzymes. Excess porphyrins are excreted as waste in the urine and stool. Overproduction and overexcretion of porphyrins causes low, unhealthy levels of heme and certain important enzymes, creating various physical symptoms. Description Biosynthesis of heme is a multistep process that begins with simple molecules and ends with a large, complex heme molecule. Each step of the chemical pathway is directed by its own task-specific protein, called an enzyme. As a heme precursor molecule moves through each step, an enzyme modifies the precursor in some way. If a precursor molecule is not modified, it cannot proceed to the next step, causing a buildup of that specific precursor. This situation is the main characteristic of the porphyrias. Owing to a defect in one of the enzymes of the heme biosynthesis pathway, protoporphyrins or porphyrins (heme precursors) are prevented from proceeding further along the pathway. These precursors accumulate at the stage of the enzyme defect causing an array of physical symptoms in an affected person. Specific symptoms depend on the point at which heme biosynthesis is blocked and which precursors accumulate. In general, the porphyrias primarily affect the skin and the nervous system. Symptoms can be debilitating or life threatening in some cases. Porphyria is most commonly an inherited condition. It can also, however, be acquired after exposure to poisonous substances.

10. Porphyrias porphyrias. Definition. The porphyrias are specific precursor. Thissituation is the main characteristic of the porphyrias. Owing http://www.healthatoz.com/healthatoz/Atoz/ency/porphyrias.html

Encyclopedia Index P Home Encyclopedia Encyclopedia Index P Porphyrias Definition The porphyrias are disorders in which the body produces too much porphyrin and insufficient heme (an iron-containing nonprotein portion of the hemoglobin molecule). Porphyrin is a foundation structure for heme and certain enzymes. Excess porphyrins are excreted as waste in the urine and stool. Overproduction and overexcretion of porphyrins causes low, unhealthy levels of heme and certain important enzymes, creating various physical symptoms. Description Biosynthesis of heme is a multistep process that begins with simple molecules and ends with a large, complex heme molecule. Each step of the chemical pathway is directed by its own task-specific protein, called an enzyme. As a heme precursor molecule moves through each step, an enzyme modifies the precursor in some way. If a precursor molecule is not modified, it cannot proceed to the next step, causing a buildup of that specific precursor. This situation is the main characteristic of the porphyrias. Owing to a defect in one of the enzymes of the heme biosynthesis pathway, protoporphyrins or porphyrins (heme precursors) are prevented from proceeding further along the pathway. These precursors accumulate at the stage of the enzyme defect causing an array of physical symptoms in an affected person. Specific symptoms depend on the point at which heme biosynthesis is blocked and which precursors accumulate. In general, the porphyrias primarily affect the skin and the nervous system. Symptoms can be debilitating or life threatening in some cases. Porphyria is most commonly an inherited condition. It can also, however, be acquired after exposure to poisonous substances.

11. Porphyrias | AHealthyMe.com Personalize AHealthyMe! Sign up for our Newsletter! porphyrias. Judy C. Hawkins MS. Definition The porphyrias are disorders in which the body produces too much porphyrin and insufficient heme (an http://www.ahealthyme.com/article/gale/100083892;$sessionid$4MR0NQYAAAKEHWCYSYZS

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! Porphyrias Judy C. Hawkins MS Definition The porphyrias are disorders in which the body produces too much porphyrin and insufficient heme (an iron-containing nonprotein portion of the hemoglobin molecule). Porphyrin is a foundation structure for heme and certain enzymes. Excess porphyrins are excreted as waste in the urine and stool. Overproduction and overexcretion of porphyrins causes low, unhealthy levels of heme and certain important enzymes, creating various physical symptoms. Description Biosynthesis of heme is a multistep process that begins with simple molecules and ends with a large, complex heme molecule. Each step of the chemical pathway is directed by its own task-specific protein, called an enzyme. As a heme precursor molecule moves through each step, an enzyme modifies the precursor in some way. If a precursor molecule is not modified, it cannot proceed to the next step, causing a buildup of that specific precursor. This situation is the main characteristic of the porphyrias. Owing to a defect in one of the enzymes of the heme biosynthesis pathway, protoporphyrins or porphyrins (heme precursors) are prevented from proceeding further along the pathway. These precursors accumulate at the stage of the enzyme defect causing an array of physical symptoms in an affected person. Specific symptoms depend on the point at which heme biosynthesis is blocked and which precursors accumulate. In general, the porphyrias primarily affect the skin and the nervous system. Symptoms can be debilitating or life threatening in some cases. Porphyria is most commonly an inherited condition. It can also, however, be acquired after exposure to poisonous substances.

12. Porphyrias porphyrias. porphyrias are a group of defects in the heme synthesis leading to the accumulation of some precursors and to characteristic symptoms. Two kinds of clinical presentations are seen (together or separately) http://www.erasme.ulb.ac.be/globule/English/porphyrias.htm

Porphyrias Porphyrias are a group of defects in the heme synthesis leading to the accumulation of some precursors and to characteristic symptoms. Two kinds of clinical presentations are seen (together or separately): acute crises (abdominal and neurological signs) cutaneous lesions (skin fragility and photosensitivity) Last Update: Webmaster

13. THE PORPHYRIAS The porphyrias. © Dr. Maged N. Kamel Boulos MediCAD Multimedia,1995-98. All rights reserved. http//www.medicad.com. Acronyms AIP http://www.geocities.com/stantonios/mc/porphyria.html

The Porphyrias http://www.medicad.com Acronyms: AIP, A cute I ntermittent P orphyria; CEP, C ongenital E rythropoietic P orphyria; PCT, P orphyria C utanea T arda; HEP, H epato e rythropoietic P orphyria; HCP, H ereditary C opro p orphyria; VP, V ariegate P orphyria; EPP, E rythropoietic P roto p orphyria Mechanism of porphyrin-induced photosensitivity: The photosensitivity of the skin in porphyria is due to porphyrins absorbing ultraviolet radiation in the 400 nm range and emitting an intense red fluorescence. Porphyrins, when irradiated with light of the appropriate wavelength in the presence of oxygen, will cause photodynamic effects. Light energy absorbed by the porphyrin raises electrons into an excited state. Energy released on return of the molecule to its original state reacts with oxygen to produce free radicals and singlet oxygen (O) which damages molecules, cells and tissues. Unsaturated lipids are particular targets for activated oxygen species; cell damage results from the resulting plasma membrane and lysosomal membrane injury and also from complement activation. b -Carotene, a known quencher of free radicals and singlet oxygen, has a photoprotective effect in porphyria.

14. Cheryl Ann's Porphyria Links The porphyrias. Home. Links. Disclaimer. Center For Study of Disorders of Iron andPorphyrin Metabolism. Human porphyrias Page. Index of Porphyrin Labs Worldwide. http://www.geocities.com/porphyria2000/porphs.htm

The Porphyrias Home Links A Guide for People with Porphyria - Includes SAFE and UNSAFE Drug List Center For Study of Disorders of Iron and Porphyrin Metabolism ... Cheryl Ann

15. THE MERCK MANUAL, Sec. 2, Ch. 14, The Porphyrias Chapter 14. The porphyrias. Topics. General. General. The porphyrias A groupof disorders cause by deficiencies of enzymes of the heme biosynthetic pathway. http://www.merck.com/mrkshared/mmanual/section2/chapter14/14a.jsp

16. Search: - Info.co.uk Results for porphyrias from Info.co.uk metasearch. Find better search results from the Web, Yellow Pages and White Pages quickly and easily! main groups of porphyrias nonacute porphyrias and acute porphyrias. Non-acute or cutaneous porphyrias. Acute porphyrias http://dpxml.infospace.com/infocom.uk/results?otmpl=dog/webresults.htm&qkw=P

17. THE MERCK MANUAL, Sec. 2, Ch. 14, The Porphyrias Chapter 14. The porphyrias. Topics. General. Less Common porphyrias. DELTAAMINOLEVULINICACID DEHYDRATASE DEFICIENCY (ALA Dehydratase-Deficient Porphyria). http://www.merck.com/mrkshared/mmanual/section2/chapter14/14c.jsp

18. Porphyria Initiative : The Porphyrias encourage medical research. porphyrias are uncommon diseases for whichdiagnosis and treatment varies in individual countries. EPI was http://www.porphyria-europe.com/EN/01-Info_Physicians/The-porphyrias/the-porphyr

The mission of the European Porphyria Initiative (EPI) is to present an up to date approach to the understanding of porphyria, focusing in particular on the prevention and treatment of acute attacks, to provide information and support to families affected by porphyria, and to support and encourage medical research. Porphyrias are uncommon diseases for which diagnosis and treatment varies in individual countries. EPI was formed in order to compare experience between countries, attempt to develop a common approach to the management of these diseases and to facilitate international collaborative clinical research and development. The first phase of the project, of which this website is part, has been undertaken by a steering group. - Select your language - English French Spanish Italian German Hebrew Turkish Dutch Polish Français Spain Italia Hebrew ... Info. for patients Porphyria booklet Patient support groups Info. for physicians The porphyrias Laboratory diagnosis ... Common prescribing problems Porphyria specialist centres Abstracts Porphyrias Congress 2003 SendMail(' Contact us', 'info1', 'porphyria-europe.com');

19. Porphyrias - Information / Diagnosis / Treatment / Prevention home nutrition and metabolism disorders porphyrias porphyrias. A personalsite about this disorder, one of the family of porphyrias. http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/porphyrias.ht

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... nutrition and metabolism disorders > porphyrias Porphyrias Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Genetic Disorders Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "porphyria" Health News: Search millions of published articles for news on Porphyrias Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Acute Intermittent Porphyria Forum Information and links about Porph. Includes registration form for an email list. Canadian Porphyria Foundation Mission statement, objectives of the organization, newsletters and safe and unsafe drugs. Also: A Guide to Porphyria - a complete booklet of information. Diagnosing the Porphyrias An article by Thomas G. DeLoughery, Associate Professor of Medicine.

20. The Porphyrias The porphyrias. http://www.indstate.edu/thcme/mwking/porphyrias.html

The Porphyrias Congenital Erythropoietic Porphyria (CEP) Erythropoietic Protoporphyria (EPP) ALA Dehydratase Deficiency Porphyria (ADP) Acute Intermittent Porphyria (AIP) ... back to Inborn Errors Page Return to Medical Biochemistry Page Michael W. King, Ph.D / IU School of Medicine / mking@medicine.indstate.edu Last modified: Thursday, 10-May-2001 10:15:01 EST

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