Definitions for "Porphyria"
Related Terms:
Hemochromatosis, Cirrhosis, Wilson's disease, Cirrhosis of the liver, Gilbert's syndrome, Haemochromatosis, Gaucher's disease, Alagille syndrome, Hellp syndrome, Megaloblastic anemia / pernicious anemia, Chronic kidney disease, Copper deficiency, Jaundice, Alport syndrome, Fatty liver, Renal osteodystrophy, Uremia, Nephrosis, Nephrotic syndrome, Hepatic encephalopathy, Diarrhea, Chronic renal insufficiency, Amyloidosis, Hyperbilirubinemia, Enlarged spleen, Asterixis, Rickets, Polycystic kidney disease, Galactosaemia, Primary biliary cirrhosis, Chronic renal failure, Hepatomegaly, Albuminuria, Iron-deficiency anemia, Acute renal failure, Renal failure, Homocystinuria, Liver detoxification / support requirement, Galactosemia, Preeclampsia, Hemolytic uremic syndrome, Osteomalacia, Hurler syndrome, Tyrosinemia, Metabolic disorder, Pernicious anemia, Pre-eclampsia, Hypercalcemia, Glomerulonephritis, Beriberi
any of a group of disorders involving excess accumulation of porphyrins
A serious inherited disease of metabolism characterized by excretion of porphyrins. Attacks can be triggered by pregnancy, excessive exposure to sunlight, and use of barbiturates or birth-control pills.
a genetic abnormality of metabolism causing abdominal pains and mental confusion
A group of a rare inherited blood disorders. Porphyria is associated with a cell's failure to transform biochemicals into other biochemicals which can then be further metabolized and excreted through the feces or urine. Porphyrins can then build up within the body. In fact, urine may be colored blue because of this. Metal disorders are associated with this.
a variety of hereditary diseases characterized by the excessive production of porphyrins and their accumulation in bone marrow, liver, bile, feces and urine.
group of rare, inherited blood disorders in which cells fail to change chemicals (porphyrins) to the substance (heme) that gives blood its color.
Disorder in which the body produces too much of a compound called porphyrin and releases it in the urine, causing a reddish color. Other symptoms include light sensitivity, skin that swells or is sensitive to sunlight, abdominal pain, blisters and muscle weakness.
A diverse group of diseases in which the production of heme is disrupted. Porphyria is derived from the Greek word "porphyra", which means purple. When heme production is faulty, porphyrins are overproduced and lend a reddish-purple color to urine. All forms of porphyrias are inherited. The key clinical features are skin sensitivity to sunlight and/or by intermittent acute attacks of abdominal and nerve pain. See the entire definition of Porphyria
A group of medical disorders of which most will cause the individual will have a strong reaction to sunlight. Areas of the skin which are exposed to the sun may burn, blister or scar. Vampire myths may well have originated as a result of the fear of sunlight by persons with porphyria.
Any group of disturbances of porphyrin metabolism
Disturbance of porphyrin metabolism characterized by increased formation, accumulation, and excretion of porphyrins and their precursors.
Any of several usually hereditary abnormalities of porphyrin metabolism characterized by excretion of excess porphyrins in the urine. Porphyrias are relatively rare disorders and can be classified based on the principal site of expression of enzymatic defect in heme synthesis.
The porphyrias are inherited or acquired by disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors). They manifest with either skin problems or with neurological complications (or occasionally both).