Variegate porphyria (VP) is an autosomal dominant condition that results from the deficiency of protoporphyrinogen oxidase (PPOX, EC 1.3). The build-up of porphyrin precursors delta-aminolevulinic ...

Centuries ago, physicians began documenting people coming down with a mystery illness that tainted their urine with a reddish hue, cursed them with extreme sensitivity to the sun and transformed their ...

Porphyria is a rare metabolic disease. Sometimes, it's known as Vampire's Disease. It gets its nickname from symptoms that include an intense sensitivity to light. Other symptoms include vomiting, ...

Study results published in PLoS One strongly suggest machine learning can be an effective approach to identify patients who should receive a diagnostic biochemical test to screen for acute hepatic ...

Acute hepatic porphyria (AHP) is a group of rare genetic disorders affecting liver function, and while inheriting the altered gene does not guarantee symptoms, specific triggers can lead to acute ...