Search results
Results from the WOW.Com Content Network
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. [1] [2] [3]
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.
CUSHING: . Central obesity/ Cervical fat pads/ Collagen fiber weakness/ Comedones (acne) . Urinary free corisol and glucose increase . Striae/ Suppressed immunity . Hypercortisolism/ Hypertension/ Hyperglycemia/ Hirsutism
Finally, we are excited today to introduce a new 'Alnylam 5x15' program - ALN-AS1 for the treatment of acute intermittent porphyria, an ultra-rare genetic disease caused by loss of function ...
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]
Hemin is protoporphyrin IX containing a ferric iron (Fe 3+) ion with a coordinating chloride ligand.. Chemically, hemin differs from the related heme-compound hematin chiefly in that the coordinating ion is a chloride ion in hemin, whereas the coordinating ion is a hydroxide ion in hematin. [2]
Porphobilinogen (PBG) is an organic compound that occurs in living organisms as an intermediate in the biosynthesis of porphyrins, which include critical substances like hemoglobin and chlorophyll.
The Watson–Schwartz test is a screening test for diagnosing intermittent porphyria, although it might also become positive in porphyria cutanea tarda (a skin form of porphyria). In this method, porphobilinogen is detected by a color reaction with Ehrlich reagent and confirming that the color is not removed by chloroform .