Denaturing Gradient Gel Electrophoresis Analysis of the Hemochromatosis (HFE) Gene: Impact of HFE Gene Mutations on the Manifestation of Porphyria Cutanea Tarda
- 1 November 1999
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 45 (11) , 2025-2026
- https://doi.org/10.1093/clinchem/45.11.2025
Abstract
Porphyria cutanea tarda (PCT) is the most common form of the porphyria disorders. PCT is caused by a decreased activity of the fifth enzyme in the heme biosynthetic pathway, uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37). In familial PCT (fPCT), the disease is associated with mutations in the gene encoding UROD, but the majority of PCT cases are apparently sporadic (sPCT). Although clinical manifestations are predominated by cutaneous lesions, various degrees of liver damage are often associated with PCT. Clinically manifest PCT usually is provoked by exogenic factors, including alcohol, estrogens, viral hepatitis infections, HIV, and iron (1).Keywords
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