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Elevated urine porphobilinogen confirms diagnosis of AIP, hereditary coproporphyria (HCP), or variegate porphyria (VP). A positive test should be indicated with an increase of five times normal, not just a slight increase which can occur with dehydration .
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 .
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 interpretation of urinalysis takes into account the results of physical, chemical and microscopic examination and the person's overall condition. Urine test results should always be interpreted using the reference range provided by the laboratory that performed the test, or using information provided by the test strip/device manufacturer. [136]
The diagnosis of any porphyria is often delayed due to the rarity of the disease as well as the varied and non-specific findings that patients present with. Bedside measurement of urine porphobilinogen is recommended as a screening test for patients suspected of having an acute porphyria. Elevated porphobilinogen is indicative of an acute ...
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.
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]
Reference ranges for urine tests are described below: Measurement Lower limit Upper limit Unit Urinary specific gravity: 1.003 [1] [2] 1.030 [1] [2] g/mL Urobilinogen: