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Porphyria

Porphyria: Introduction

Porphyria: Porphyria is a diverse group of diseases in which production of heme is disrupted. Porphyria is derived from the Greek word "porphyra", which means purple. When heme ... more about Porphyria.

Porphyria: A group of disorders characterized by excess production of porphyrin or its precursors which affects the skin and/or nervous system. More detailed information about the symptoms, causes, and treatments of Porphyria is available below.

Symptoms of Porphyria

Treatments for Porphyria

Home Diagnostic Testing

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Wrongly Diagnosed with Porphyria?

Porphyria: Related Patient Stories

Porphyria: Deaths

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Diagnostic Tests for Porphyria

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Porphyria: Complications

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Causes of Porphyria

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More information about causes of Porphyria:

Disease Topics Related To Porphyria

Research the causes of these diseases that are similar to, or related to, Porphyria:

Misdiagnosis and Porphyria

Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women, but often fails to be correctly diagnosed. Women with the...read more »

Psoriasis often undiagnosed cause of skin symptoms in children: Children who suffer from the skin disorder called psoriasis can often go undiagnosed. The...read more »

Chronic liver disease often undiagnosed: One study reported that 50% of patients with a chronic liver disease remain undiagnosed by their primary physician. The reasons are multifactorial. Possible conditions include chronic...read more »

Porphyria: Research Doctors & Specialists

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Porphyria: Animations

Research about Porphyria

Visit our research pages for current research about Porphyria treatments.

Clinical Trials for Porphyria

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Porphyria include:

Statistics for Porphyria

Porphyria: Broader Related Topics

Porphyria Message Boards

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User Interactive Forums

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Article Excerpts about Porphyria

Genes and Disease by the National Center for Biotechnology (Excerpt)

Porphyria is a diverse group of diseases in which production of heme is disrupted. Porphyria is derived from the Greek word "porphyra", which means purple. When heme production is faulty, porphyrins are overproduced and lend a reddish-purple color to urine. (Source: Genes and Disease by the National Center for Biotechnology)

Porphyria: NIDDK (Excerpt)

Porphyria is a disorder in which the body produces too much of the chemical porphyrin. Porphyrin is used to make heme, the part of blood that carries oxygen. Heme also gives blood its color. Any circulating porphyrin the body doesn't use is excreted in urine and stool. When the body produces and excretes too much porphyrin, as happens with porphyria, not enough heme remains to keep a person healthy. (Source: excerpt from Porphyria: NIDDK)

Definitions of Porphyria:

A genetic abnormality of metabolism causing abdominal pains and mental confusion - (Source - WordNet 2.1)

Porphyria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Porphyria, or a subtype of Porphyria, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Porphyria as a "rare disease".
Source - Orphanet

 

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