familial porphyria cutanea tarda
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familial porphyria cutanea tardaAn autosomal dominant disorder (OMIM:176100) characterised by adult onset of photosensitive dermatitis and copious urinary excretion of uroporphyrin. Iron overload is often present, resulting in liver damage.
Caused by defects of UROD, which encodes uroporphyrinogen decarboxylase, an enzyme in the heme biosynthetic pathway.
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