Ads
related to: porphyria triggered by antibiotics are best classified as non native medicine- Patient Education Liaison
Connect with an Alnylam educator
to learn about this condition.
- Connect With an Educator
Request to speak with an
Alnylam Patient Education Liaison.
- How Treatment May Help
Discover an available treatment
option.
- About AHP
Learn more about AHP and an
available treatment for adults.
- Patient Support Services
Receive product support as you go
through treatment for AHP.
- Sign Up for Updates
Sign up to receive the latest
news about AHP treatment.
- Patient Education Liaison
Search results
Results From The WOW.Com Content Network
Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
Porphyria cutanea tarda is the most common subtype of porphyria. [1] The disease is named because it is a porphyria that often presents with skin manifestations later in life. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs.
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias .
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
Variegate porphyria has an autosomal dominant pattern of inheritance. Mutations in the PPOX gene cause variegate porphyria. [4] The PPOX gene makes a membrane bound mitochondrial enzyme called protoporphyrinogen oxidase, which is critical to the chemical process that leads to heme production. The activity of this enzyme is reduced by 50 percent ...
A personal and family history of hepatitis, porphyria, or photosensitivity disorder must be sought. Although a genetic factor has not been considered in pseudoporphyria, one case of monozygotic twins developing pseudoporphyria after excessive UV-A exposure from long-term tanning bed use has been documented.
X-linked sideroblastic anemia or "X-linked dominant erythropoietic protoporphyria", associated with ALAS2 (aminolevulinic acid synthase), has also been described.X-linked dominant erythropoietic protoporphyria (XDEPP) is caused by a gain of function mutation in the ALAS2 (5-aminolevulinate synthase) gene; that gene encodes the very first enzyme in the heme biosynthetic pathway.
The most well-known health issue involving porphobilinogen deaminase is acute intermittent porphyria, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme.
Ad
related to: porphyria triggered by antibiotics are best classified as non native medicine