Porphobilinogen deaminase - red cell

Last updated: Thursday, 25, March, 2004

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Item Process
Specimen5 ml blood in lithium heparin tube.
Method

Spectrophotometry.

Reference Interval

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

ApplicationConfirmation 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.

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