Diagnostic Tests

Porphobilinogen Deaminase RBC


Porphobilinogen Deaminase RBC

Also known as Porphobilinogen Deaminase Rbc Blood
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What is this test?

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Acute intermittent porphyria (AIP) is caused by diminished erythrocyte activity of porphobilinogen deaminase (PBGD), also known as uroporphyrinogen I synthase or hydroxymethylbilane synthase. The biochemical diagnosis of AIP is made by demonstrating increased urinary excretion of porphobilinogen (PBG) and is most accurate during an acute episode. In addition, the diagnosis of AIP can be confirmed through the measurement of porphobilinogen deaminase (PBGD) enzyme activity in erythrocytes, although 5% to 10% of affected individuals exhibit normal erythrocyte PBGD activity.

Test Preparation

No special preparation is needed for Porphobilinogen Deaminase RBC. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Porphobilinogen Deaminase RBC. Your doctor depending on your condition will give specific instructions.

Understanding your test results

GenderAge groupsValue
UNISEXAll age groups> 7nmol/L/sec
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