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Diseases » Variegate porphyria » Summary

What is Variegate porphyria?

What is Variegate porphyria?

  • Variegate porphyria: A rare metabolic disorder characterized by a deficiency of a certain enzyme which results in a build-up in the body of porphyrins or their precursors. This form of hepatic porphyria causes the sufferer to have acute attacks as well as skin sensitivity.
  • Variegate porphyria: An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.
    Source - Diseases Database

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

Variegate porphyria: Introduction

Types of Variegate porphyria:

Broader types of Variegate porphyria:

How many people get Variegate porphyria?

Prevalance of Variegate porphyria: approximately 3 per 1,000 white South Africans suffer from variegate porphyria, Genetics Home Reference website
Prevalance Rate of Variegate porphyria: approx 1 in 333 or 0.30% or 816,000 people in USA [about data]

How serious is Variegate porphyria?

Complications of Variegate porphyria: see complications of Variegate porphyria

What causes Variegate porphyria?

Causes of Variegate porphyria: see causes of Variegate porphyria

What are the symptoms of Variegate porphyria?

Symptoms of Variegate porphyria: see symptoms of Variegate porphyria

Complications of Variegate porphyria: see complications of Variegate porphyria

Can anyone else get Variegate porphyria?

More information: see contagiousness of Variegate porphyria
Inheritance: see inheritance of Variegate porphyria

Variegate porphyria: Testing

Diagnostic testing: see tests for Variegate porphyria.

Misdiagnosis: see misdiagnosis and Variegate porphyria.

How is it treated?

Doctors and Medical Specialists for Variegate porphyria: Dermatologist ; see also doctors and medical specialists for Variegate porphyria.
Treatments for Variegate porphyria: see treatments for Variegate porphyria
Research for Variegate porphyria: see research for Variegate porphyria

Name and Aliases of Variegate porphyria

Main name of condition: Variegate porphyria

Other names or spellings for Variegate porphyria:

Porphyria variegate, VP, Porphyria, South African type, Protoporphyrinogen oxidase deficiency, PPOX deficiency, mixed hepatic porphyria, porphyria cutanea tarda hereditaria, porphyria hepatica, variegate, South African genetic porphyria

Dean-Barnes syndrome, Porphyria variegata, Protocoproporphyria, Protoporphyrinogen oxidase deficiency, South African porphyria Source - Diseases Database

PPOX deficiency, Porphyria variegate, Porphyria, South African type, Protoporphyrinogen oxidase deficiency, VP
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Variegate porphyria: Related Conditions

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


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