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 ...

Acute porphyria is a group of uncommon diseases that can cause severe, potentially life-threatening attacks of abdominal pain, nausea, vomiting and paralysis. Liver transplantation is currently the ...

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 ...

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, ...

Dr. John C. Schell (Medicine): A 25-year-old woman with a history of acute intermittent porphyria was admitted to this hospital because of abdominal pain and jerking movements of the right arm and leg ...

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 ...

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 ...

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, announced today that the Company and its collaborators will present at the 2019 ...

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 ...