Diagnosing acute hepatic porphyria (AIP) involves measuring porphobilinogen (PBG) levels in urine during symptomatic episodes, combined with genetic testing to identify HMBS gene alterations that ...

Acute hepatic porphyria (AHP) is a group of rare genetic disorders that affect the liver’s ability to produce heme, a vital component of blood, and can manifest with a variety of symptoms often ...

Patients with porphyria cutanea tarda have more cutaneous lesions in summer than in winter, but only after prolonged and chronic exposure to light. Some patients excrete red, fluorescent urine during ...

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 ...

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, ...

Doctors have used a new type of medicine called "gene silencing" to reverse a disease that leaves people in crippling pain. The condition, acute intermittent porphyria, also causes paralysis and is ...