Urine Porphobilinogen (Spot)

Specimen Required

Urine (Random/Spot)

Fasting Required

Purpose of the Urine Porphobilinogen (Spot) Test

The urine porphobilinogen (PBG) test is primarily used to diagnose acute intermittent porphyria (AIP), a rare genetic disorder that affects the production of heme in the body.

When this Urine Porphobilinogen (Spot) test is required

The urine PBG test is requested when a patient presents with symptoms suggestive of acute intermittent porphyria, such as abdominal pain, nausea, vomiting, constipation, and mental confusion. The test may also be requested if a patient has a family history of porphyria.

What the Urine Porphobilinogen (Spot) Test Detects

The urine porphobilinogen (PBG) test measures the amount of PBG in the urine. PBG is a precursor of heme, which is used by the body to make hemoglobin, myoglobin, and cytochromes.

Preparation for the Urine Porphobilinogen (Spot) Test

There are no specific test preparations needed.

Sample Requirements

A spot urine sample is required for the test.

Additional Notes

Acute intermittent porphyria (AIP) is a rare genetic disorder that affects the production of heme in the body. The condition is caused by a deficiency of the enzyme porphobilinogen deaminase (PBGD), which leads to an accumulation of porphyrins in the body. AIP can be a life-threatening condition if left untreated, as it can cause damage to the nervous system and other organs. Treatment typically involves the use of medications to control symptoms and the avoidance of triggers, such as certain medications and alcohol.

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