HEP is an autosomal recessive disease caused by mutations in the gene responsible for PCT, the uroporphyrinogen decarboxylase gene (UROD), located at 1p34.
PCT may be acquired, typically as a result of disease (especially hepatitis C), drug or alcohol use, or exposure to certain poisons.
HEP results from a defect in uroporphyrinogen decarboxylase activity (step 5), and is caused by defects in the same gene as PCT.
Porphyria cutanea tarda (PCT) is also called symptomatic porphyria, porphyria cutanea symptomatica, and idiosyncratic porphyria.
PCT may also be inherited as an autosomal dominant disorder, however most people remain latent-that is, symptoms never develop.
PCT is caused by mutations in the uroporphyrinogen decarboxylase gene (UROD) located at 1p34.
PCT is the most common of the porphyrias, but the incidence of PCT is not well defined.
PCT is caused by deficient uroporphyrinogen decarboxylase.
PCT may occur as an acquired or an inherited condition.
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