Uroporphyrinogen decarboxylase - red cells

Last updated: Friday, 19, March, 2004

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Item Process
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.