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Topic: Porphyria

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In the News (Fri 14 Jun 19)

  MedlinePlus: Porphyria
The primary NIH organization for research on Porphyria is the National Institute of Diabetes and Digestive and Kidney Diseases
Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme.
Porphyria Cutanea Tarda and Hepatitis C Virus(American Porphyria Foundation)
www.nlm.nih.gov /medlineplus/porphyria.html   (276 words)

 Postgraduate Medicine: Porphyria cutanea tarda
The term "porphyria" is derived from the Greek word for "purple" and originally referred to the red to purple color of the urine of patients affected by acute intermittent porphyria.
Porphyria cutanea tarda is the most prevalent of the porphyrias and can be acquired sporadically or inherited through autosomal dominant transmission with variable, usually low, penetrance.
Photosensitivity is the hallmark of porphyria cutanea tarda.
www.postgradmed.com /issues/1999/04_99/rich.htm   (1638 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)

Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body.
The porphyrias are inherited conditions, and the genes for all enzymes in the heme pathway have been identified.
Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun.
digestive.niddk.nih.gov /ddiseases/pubs/porphyria/index.htm   (0 words)

 Welcome to the American Porphyria Foundation
The APF is dedicated to improving the health and well-being of individuals and families affected by porphyria.
Along with other porphyria experts, EPP expert and researcher, Dr. Elisabeth Minder from Zurich, Switzerland, will be making a presentation on their fascinating study results with CUV1647 in EPP.
When you join the APF, you become partners with an international team of healthcare professionals and Sponsors committed to improving the health of individuals and families affected by porphyria.
www.porphyriafoundation.com   (0 words)

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.
Hemochromatosis (HFE) Gene Mutations and Response to Chloroquine in Porphyria Cutanea Tarda.
www.thedoctorsdoctor.com /diseases/porphyria.htm   (4979 words)

 Acute Porphyria:Information for people with acute intermittent porphyria:English
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.
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.
www.porphyria-europe.com /01-for-patients/EN/for-patients.asp   (3530 words)

 Porphyria - Genetics Home Reference
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.
Porphyrias with an autosomal recessive pattern of inheritance include ALAD deficiency porphyria, congenital erythropoietic porphyria, and rare cases of erythropoietic protoporphyria.
ghr.nlm.nih.gov /condition=porphyria   (1354 words)

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