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.

---

porphyria British  

/ pɔːˈfɪrɪə /

noun

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

---

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 • May 6, 2023

In a 2019 trial, givosiran reduced the frequency of the painful and debilitating neurological symptoms of porphyria attacks by 74%, and the drug is awaiting regulatory approval.

From Nature • Oct. 15, 2019

She also found out that she has a rare gene mutation that causes a disease called variegate porphyria, which can cause blistering skin lesions and acute attacks that cause severe abdominal pain.

From Washington Post • Jun. 26, 2017

In the case of a gene pool as small as the Windsors’, it would be as good as ensuring your child is born with porphyria and/or a vestigial tail.

From The Guardian • Dec. 11, 2015

Present day medical scholars now believe that this illness was perhaps porphyria or some type of metabolic illness, which could now be treated and controlled by diet and medication.

From The Road to Independence: Virginia 1763-1783 by Virginia. History, Government, and Geography Service