Porphobilinogen deaminase

Keywords: Uroporphyrinogen synthetase

Specimen:

5 mL blood in lithium heparin tube.

Method:

Spectrophotometry.

Reference Interval:

Varies with method: generally 500-800 mU/L.

Application:

Confirmation of acute intermittent porphyria and diagnosis of asymptomatic family members.

Interpretation:

Levels are usually decreased by up to 50% in patients with acute intermittent porphyria. However, some patients may have values within the reference interval.

Not all persons with the genetic defect have a history of clinical disease.

Reference:

Lecha M et al. Dermatol Ther. 2003; 16(1): 65-72.