Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients.

Dario Tavazzi, diMontemurosFranco Martinez, Silvia Fargion, Anna Ludovica Fracanzani, Gemino Fiorelli, Maria Domenica Cappellini

Research output: Contribution to journalArticlepeer-review

Abstract

Porphyria cutanea tarda (PCT) is a human metabolic disorder due to the acquired or genetic impairment of uroporphyrinogen decarboxylase (URO-D) activity, the fifth enzyme of the heme biosynthetic pathway. A classification of inherited and non-inherited forms is based on the enzyme activity levels in red blood cells (RBC). Clinical manifestations of PCT are often precipitated by triggering factors such as alcohol, drug abuse, estrogens, virus infections, hepatotoxic chemicals and hepatic siderosis. We measured URO-D activity in RBC from a large sample of Italian PCT patients in order to define the enzyme activity distribution and to attempt a correlation among activity, risk factors and clinical outcome. Three classes of patients with low, normal and over-normal URO-D activity were defined according to control values. Low URO-D levels were present in 25.8% of patients, suggesting the familial form of PCT (type II). In this group, the outcome of PCT seems to be less influenced by risk factors. Patients with over-normal URO-D activity in RBC deserve further investigation.

Original languageEnglish
Pages (from-to)27-32
Number of pages6
JournalCellular and Molecular Biology
Volume48
Issue number1
Publication statusPublished - Feb 2002

ASJC Scopus subject areas

  • Cell Biology
  • Clinical Biochemistry
  • Molecular Biology

Fingerprint Dive into the research topics of 'Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients.'. Together they form a unique fingerprint.

Cite this