What is Porphyria?

What is Porphyria?

• Porphyria: A group of disorders characterized by excess production of porphyrin or its precursors which affects the skin and/or nervous system.
• 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

Porphyria: Introduction

Types of Porphyria:

Broader types of Porphyria:

• Blood conditions
• Genetic Disease
• Skin conditions
• Metabolic conditions
• Liver conditions
• more types...»

How serious is Porphyria?

Complications of Porphyria: see complications of Porphyria

What causes Porphyria?

Causes of Porphyria: see causes of Porphyria
Cause of Porphyria: Excess production of heme and porphyrins
Causes of Porphyria: Heme is composed of porphyrin, a large circular molecule made from four rings linked together with an iron atom at its center. Heme is the oxygen-binding part of hemoglobin, giving red blood cells their color. It is also a component of several vital enzymes in the liver including the group known as cytochrome P450. This enzyme family is important in converting potentially harmful substances such as drugs to inactive products destined for excretion. (Source: Genes and Disease by the National Center for Biotechnology)

What are the symptoms of Porphyria?

Symptoms of Porphyria: see symptoms of Porphyria

Complications of Porphyria: see complications of Porphyria

Can anyone else get Porphyria?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
More information: see contagiousness of Porphyria
Inheritance: see inheritance of Porphyria

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Porphyria: Testing

Diagnostic testing: see tests for Porphyria.

Misdiagnosis: see misdiagnosis and Porphyria.

How is it treated?

Treatments for Porphyria: see treatments for Porphyria
Research for Porphyria: see research for Porphyria

Organs Affected by Porphyria:

Organs and body systems related to Porphyria include:

• Blood
• Nerves
• Skin

Name and Aliases of Porphyria

Main name of condition: Porphyria

Class of Condition for Porphyria: genetic

Porphyria: Related Conditions

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

• Photodermatitis
• Hepatocellur carcinoma
• Cardiac arrhythmias
• Systemic lupus erythematosus
• Constipation
• Porphobilinogen

Search Specialists by State and City