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. More detailed information about the symptoms, causes, and treatments of Variegate porphyria is available below.
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An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) 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)
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