Acute intermittent porphyria (AIP) is an inborn error of metabolism inherited via a fully identified autosomal dominant gene. The porphyrias, a group of diseases ...

Please provide your email address to receive an email when new articles are posted on . Dickey, an assistant professor at Massachusetts General Hospital, highlighted the study, which specifically ...

An international research team has linked rare variations in a cell membrane protein to the wide variation in symptom severity that is a hallmark of porphyria, a rare disorder that often affects the ...

An acute AIP attack may have numerous clinical manifestations. Abdominal pain is not only the most common symptom, but also is often the first sign of an acute attack. [3] Other common symptoms ...

Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to the pathogenesis of acute ...

BETHESDA, Md., May 17, 2024 /PRNewswire/ -- United Porphyrias Association (UPA) is proud to announce May 18 as Global Porphyria Day. Global Porphyria Day is intended to create awareness that prompts ...

Alnylam Pharmaceuticals has put its dancing shoes on to raise awareness of the experience of living with acute hepatic porphyria (AHP). A recently released patient storytelling initiative by the ...

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterised by a deficiency of uroporphyrinogen III synthase (UROS), a pivotal enzyme in the haem biosynthetic ...