Hepatoerythropoietic porphyria (HEP) is an uncommon inherited cutaneo us porph yria, related to porphyria cutanea tarda, that results from severe uroporphyrino gen decarboxylase (UROD) deficiency. It is characterized ...Hepatoerythropoietic porphyria (HEP) is an uncommon inherited cutaneo us porph yria, related to porphyria cutanea tarda, that results from severe uroporphyrino gen decarboxylase (UROD) deficiency. It is characterized clinically by the onset in early childhood of severe lesions on sun-exposed skin. We describe a man a ged 38 years with an unusually mild form of the disease that started in his earl y teens. Our data confirm that homozygosity for the F46L mutation in the UROD ge ne causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates.展开更多
文摘Hepatoerythropoietic porphyria (HEP) is an uncommon inherited cutaneo us porph yria, related to porphyria cutanea tarda, that results from severe uroporphyrino gen decarboxylase (UROD) deficiency. It is characterized clinically by the onset in early childhood of severe lesions on sun-exposed skin. We describe a man a ged 38 years with an unusually mild form of the disease that started in his earl y teens. Our data confirm that homozygosity for the F46L mutation in the UROD ge ne causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates.
