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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]
The acute attacks classically present with dark-red photosensitive urine (often called port-wine urine), but this is a nonspecific symptom. [12] Physical examination often shows no abnormalities. [13] Hyponatremia is the most common electrolyte abnormality during acute attacks, occurring in 40% of patients and presenting as SIADH. [13]
Medications can cause urine color changes, too—for instance, pyridium and rifampin may make urine appear red to bright orange, hyoscyamine blue causes blue urine and fluorescein turns it bright ...
Blue urine stains can be caused by blue diaper syndrome. Purple urine may be due to purple urine bag syndrome . Black or dark-colored urine is referred to as melanuria and may be caused by a melanoma or non-melanin acute intermittent porphyria .
Blue or green: Seeing blue or green in your toilet bowl might be surprising, but it could be due to certain medications or dyes in foods. Vibrant yellow: B vitamins can infuse your urine with a ...
Multiple myeloma—a type of cancer that forms in the plasma cells of your blood—can lead to extra protein in the urine and cause it to look foamy. Antibodies that are produced as a result of ...
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.
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.