A mutation that impacts an enzyme involved in heme biosynthesis causes porphyrias, which are inheritable metabolic disorders. There are different types of porphyrias based on the specific enzyme ...

Porphyria cutanea tarda (PCT) is a common form of hepatic porphyria characterized by symptoms such as fragile, blister-prone skin particularly on sun-exposed areas. The condition occurs due to an ...

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, ...

Please provide your email address to receive an email when new articles are posted on . Clinicians are hoping an RNA interference therapeutic targeting aminolevulinic acid synthase 1, known as ...

Please provide your email address to receive an email when new articles are posted on . Alnylam Pharmaceuticals announced positive topline results from an interim analysis of the Envision phase 3 ...

Mischa Keeling has since childhood dealt with an inherited blood disorder some call the vampire disease or King George’s madness. The Spokane Valley resident finally received a diagnosis about five ...

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 ...

CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today on Rare Disease Day announced the premiere of its new documentary, Two of ...