HEREDITARY COPROPORPHYRIA

Abstract

Abstract A family with hereditary coproporphyria from central Jutland, Denmark, is described. In spite of excretion of considerable amounts of coproporphyrin III with the feces, but no protoporphyrin, and occasionally increased urinary porphyrin as well as porphyrin precursors (PBG and/or ALA) in the urine, all the affected members except one were completely free from symptoms of porphyria during the four years the family was under observation. The only member of the family exhibiting symptoms had a mild attack of acute intermittent porphyria type, presumably provoked by barbiturates, accompanied by pyelonephritis and coli sepsis. She constantly excreted high amounts of coproporphyrin III in her feces and, periodically at least, increased coproporphyrin and slightly increased uroporphyrin with the urine. In most of her siblings the excretion was intermittent and in all of them it was considerably lower than in the patient, although highly elevated. Among the next generation the excretion was much lower. The observations support the concept of dominant inheritance.