PORPHOBILINOGEN DEAMINASE - red cell

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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: Mustajoki P and Tenhunen R. Eur J Clin Invest 1985; 15: 281-284.

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