Variegate porphyria

Variegate porphyria (pronunciation: vair-ee-uh-geyt por-fear-ee-uh) is a rare genetic disorder that affects the skin and nervous system.

Etymology

The term "variegate" comes from the Latin word "variegatus", meaning varied or diverse, referring to the diverse symptoms of this condition. "Porphyria" is derived from the Greek word "porphyra", meaning purple, as urine from a person with porphyria can turn purple in the light.

Definition

Variegate porphyria is a type of porphyria that is characterized by skin symptoms, such as blisters and sensitivity to sunlight, and neurological symptoms, such as abdominal pain, seizures, and mental disturbances. It is caused by a deficiency of the enzyme protoporphyrinogen oxidase, which is involved in the production of heme, a component of hemoglobin.

Symptoms

The symptoms of variegate porphyria can be divided into two categories: skin symptoms and neurological symptoms. Skin symptoms include sensitivity to sunlight, blisters, and skin damage. Neurological symptoms include abdominal pain, seizures, mental disturbances, and sometimes paralysis.

Causes

Variegate porphyria is caused by mutations in the PPOX gene, which provides instructions for making the enzyme protoporphyrinogen oxidase. This enzyme is involved in the production of heme, a molecule that is a component of hemoglobin, the protein in red blood cells that carries oxygen.

Treatment

Treatment for variegate porphyria focuses on managing symptoms and preventing acute attacks. This may include avoiding triggers, such as certain medications and alcohol, and protecting the skin from sunlight. In some cases, medications may be used to reduce the production of porphyrins, the substances that build up and cause symptoms in porphyria.

Related Terms

• Porphyria
• Porphyrin
• Heme
• Hemoglobin
• Protoporphyrinogen oxidase
• PPOX gene

External links

• Medical encyclopedia article on Variegate porphyria
• Wikipedia's article - Variegate porphyria

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