HEPATOERYTHROPOIETIC PORPHYRIA - RELATIONSHIP WITH FAMILIAR PORPHYRIA-CUTANEA-TARDA

Hepatoerythropoietic porphyria is characterized by an early beginning of severe photosensitivity, with an increase in urinary uroporphyrin e xcretion and other porphyrins, high isocoproporphyrin fecal levels and an accumulation of protoporphyrin in erythrocytes. It is caused by a dramatic decrease in the activity of the uroporphyrinogen decarboxylas e. We report a clinical, biochemical and enzymatic study in a family, where a 2-year-old girl suffers from a hepatoerythropoietic porphyria, and the patient's maternal uncle from a porphyria cutanea tarda. We d iscuss the relationship between these diseases and their known mutatio ns.