Ads
related to: erythropoietic protoporphyria symptoms
Search results
Results From The WOW.Com Content Network
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 ]
X-linked dominant erythropoietic protoporphyria is a relatively mild version of porphyria with the predominant symptom being extreme photosensitivity causing severe itching and burning sensation of the skin due to the buildup of protoporphyrin IX. One possible treatment was discovered when treating an individual with supplemental iron for a ...
X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity. [22] [23] In the autosomal recessive types, anyone who inherit a single gene may become a carrier. Generally they do not have symptoms but may pass the gene on to offspring. [24]
Günther disease is a congenital form of erythropoietic porphyria.The word porphyria originated from the Greek word porphura. Porphura actually means "purple pigment", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease. [3]
Heme is produced in all cells, but 80% of all heme is produced in erythropoietic cells in bone marrow and 15% in parenchymal cells in the liver, where turnover of hemoproteins is high. In AIP, over 100 mutations have been identified on the long arm of chromosome 11 at the HMBS gene , which codes for the cytoplasmic enzyme porphobilinogen ...
Other symptoms include heightened senses, lack of focus, feeling trapped, irregular heartbeat, air hunger, rapid breathing, parched mouth, sweating, muscle cramps, and physical discomfort that is not actually caused by bodily injury, but is a physical manifestation of the panic and fear that the heliophobic person experiences when exposed to light.
PCT is a chronic condition, with external symptoms often subsiding and recurring as a result of multiple factors. In addition to the skin lesions, chronic liver disease is very common in patients with sporadic PCT. This involves hepatic fibrosis (scarring of the liver), and inflammation.
Defects in ferrochelatase create a buildup of protoporphyrin IX, causing erythropoietic protoporphyria (EPP). [9] The disease can result from a variety of mutations in FECH, most of which behave in an autosomal dominant manner with low clinical penetrance.