UROPORPHYRINOGEN DECARBOXYLASE - red cells

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Specimen: 5 ml blood in a lithium heparin tube.

Method: HPLC, immunoassay.

Reference Interval: Depends on laboratory and method.

Application: Diagnosis of hereditary porphyria cutanea tarda (PCT) and hepatoerythropoietic porphyria.

Interpretation: In acquired PCT (usually associated with chronic alcoholism), the red cell enzyme is normal, whereas in genetic PCT it is low. Up to 20% of patients with PCT have the genetic disease.

Reference: Sweeney GD. Clin Biochem 1986; 19: 3-15.

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