Uroporphyrinogen decarboxylase

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.