What is porphyria in simple words?

Porphyria (por-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissues.

What is hereditary Coproporphyria?

Hereditary coproporphyria (HCP) is a rare metabolic disorder characterized by deficiency of the enzyme coproporphyrinogen oxidase. This enzyme deficiency results in the accumulation of porphyrin precursors in the body. This enzyme deficiency is caused by a mutation in the CPOX gene.

Why is urine purple in porphyria?

The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some Porphyria patients may be reddish-purple in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.

What are the 8 types of porphyria?

The specific names of the eight types of porphyrias are:

  • Delta-aminolevulinate-dehydratase deficiency porphyria.
  • Acute intermittent porphyria.
  • Hereditary coproporphyria.
  • Variegate porphyria.
  • Congenital erythropoietic porphyria.
  • Porphyria cutanea tarda.
  • Hepatoerythropoitic porphyria.
  • Erythropoietic protoporphyria.

Why is porphyria called the vampire disease?

Porphyria cutanea tarda (PCT) is a type of porphyria or blood disorder that affects the skin. PCT is one of the most common types of porphyria. It’s sometimes referred to colloquially as vampire disease. That’s because people with this condition often experience symptoms following exposure to sunlight.

How common is hereditary Coproporphyria?

Hereditary coproporphyria (HCP) is rare. The exact incidence is unknown. One study suggested that about 1/5,000,000 people have HCP in Europe. Females are more commonly affected than males.

What is erythropoietic Protoporphyria?

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene.

What enzyme causes porphyria?

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.

Where did porphyria originate?

Some have speculated that major historical figures such as King George III may have had a form of this disorder. Porphyrias result from an overabundance of heme precursors originating in the liver or bone marrow, where red blood cells are produced.

What genes cause porphyria?

Causes. Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS.