porphyria

American  

[pawr-feer-ee-uh, -fahy-ree-uh] / pɔrˈfɪər i ə, -ˈfaɪ ri ə /

noun

Pathology.

1. a defect of blood pigment metabolism in which porphyrins are produced in excess, are present in the blood, and are found in the urine.

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porphyria British  

/ pɔːˈfɪrɪə /

noun

1. a hereditary disease of body metabolism, producing abdominal pain, mental confusion, etc

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Etymology

Origin of porphyria

First recorded in 1920–25; porphyr(in) + -ia

Example Sentences

For many years, it was believed the king suffered from acute porphyria, a genetic disorder that can affect the nervous system.

From Los Angeles Times

The drug treats acute intermittent porphyria, which runs in families and can leave people unable to work or have a normal life.

From BBC

Sue Burrell no longer has bouts of severe pain caused by her acute intermittent porphyria.

From BBC

God knows, there were other places he could have gone – claiming to have caught porphyria from a sofa once owned by George III, for instance, or to have been chemically castrated in ’Nam.

From The Guardian

The drug, Givlaari, uses a mechanism known as RNA interference to target and “silence” specific genetic material, blocking the production of the protein that causes acute hepatic porphyria.

From Washington Post