Gourt > Health > Conditions and Diseases > Nutrition and Metabolism Disorders > Inherited > Porphyrias
The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors).
Overview
In humans, porphyrins are the main precursors of heme, an essential constituent of hemoglobin, myoglobin, catalase, peroxidase, respiratory and P450 liver cytochromes.
Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. Heme metabolism plays a central role in cellular metabolism. This is, however, not the main problem; most enzymes—even when less functional—have enough residual activity to assist in heme biosynthesis. Dysregulation of the neuroendocrine and cardiovascular systems can occur in attacks. An additional problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations. The chemical properties of these intermediates determine in which tissue they accumulate, whether they are photosensitive, and how the compound is excreted (in the urine or feces).
More on [ Porphyria ]
Genetic Disorders
Rare Disorders :: Conditions and Diseases
Health Matters : What is Pseudoporphyria: Porphyrias are a group of metabolic disorders that reflect impaired o.. http://bit.ly/12sfFK
skincap (Skincap) Wed, 18 Nov 2009 13:55:36 -0000
Health Matters : What is Pseudoporphyria: Porphyrias are a group of metabolic disorders that reflect impaired o.. http://bit.ly/12sfFK
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.
Meta Description: [ Canadian Porphyria Foundation ]
Diagnosing the Porphyrias - An article by Thomas G. DeLoughery, Associate Professor of Medicine.
Meta Description: [ Hemonc Home ]
EPP - Short for Erythropoetic ProtoPorhyria, which is a rare metabolic disease. A personal site about this disorder, one of the family of porphyrias.
King George II and Porphyria - Talks about the symptoms of porphyria affecting King George III who ruled England during the American revolution.
Me and AIP - Acute Intermittent Porphyria. A personal experience with this disease touching on nutrition, diet, doctors and a healthier safer chemically free environment.
Pediatric Oncall - Information on porphyrias including the various types and its management.
Meta Description: [ porphyria, the various types and its management Pediatric Oncall ]
Porphgroup - An e-mail group at Yahoo dealing with the metabolic disease porphyria.
Meta Description: [ porphgroup: A on-line support group for those with or the families of the metabolic disease porphyria ]
Porphyria - A look at the different types of these disease and some of their characteristics.
Porphyria - From Yahoo Groups. E-mail list for people with Porphyria. Friends, families and care givers are welcome.
Meta Description: [ porphyria: This is a list for people with Porphyria. Friends, families and caregivers are welcome. It is a group for support and informat ]
Porphyria Page - A patient guide for all people with this disorder. Compiled by Professor Michael Moore.
Meta Description: [ Porphyria Page is a patient guide for all people with this disorder. It contains relavant information and a list of safe and unsafe drugs which can be used. This page has been put together by Professor Michael Moore a world authority on the subject. ]
Porphyria: The Unknown Disease - Genetic metabolic disorder. Overview of types, testing and diagnosis, and links.
Porphyrias: Diagnosis and Treatment - Clinical manifestations, diagnosis, etiology and treatment of six types of porphyrias are discussed.
Meta Description: [ Clinical manifestations, diagnosis, etiology and treatment of six types of porphyrias are rapidly discussed. Pathogenesis constitutes a complex and wide group of enzime deficiencies and is not described above. ]
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Prophyria in Charlottesville - An e-mail sent to Professor Huskey from a person working on a rescue squad.
Suite 101 - Offers links and articles about Porphyria.
Meta Description: [ Porphyria (poor/FEAR/eeyah) may be the most misunderstood (and missed) disease of the millenium. Porphyria is a rare, usually inherited, metabolic disorder. It is not a single disease, but a group of at least eight disorders. - dewey decimal 616.399 ]
