Porphobilinogen (PBG) Deaminase WB
About Test
The Porphobilinogen (PBG) Deaminase Western blot test is a laboratory test used to diagnose a condition called acute intermittent porphyria (AIP). AIP is a group of rare genetic disorders that cause a buildup of porphyrins in the body, leading to symptoms such as abdominal pain, constipation, nausea, and vomiting.
The PBG Deaminase Western blot test measures the levels of a specific enzyme called PBG deaminase in a person's blood or urine. PBG deaminase is involved in the production of heme, which is a component of hemoglobin and other proteins in the body. In people with AIP, there is a deficiency of PBG deaminase, leading to a buildup of porphyrins in the body.
The PBG Deaminase Western blot test is usually done as part of an evaluation for AIP, especially in people who have symptoms such as abdominal pain, constipation, nausea, and vomiting. The results of the test, along with a person's clinical symptoms and other factors, can help healthcare providers diagnose and manage AIP and guide treatment decisions.
It's important to note that the PBG Deaminase Western blot test is not a definitive diagnostic test for AIP, and a positive result should be confirmed with other tests such as a urine porphyrin test or a genetic test. The results of the PBG Deaminase Western blot test should be considered along with a person's overall health status, clinical symptoms, and other factors that may contribute to the symptoms of AIP.