Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria.

The course of delta-aminolaevulinic acid dehydratase activity was studied over the 23 years in erythrocytes of two male patients. The enzyme activity was originally 1-2%, which then increased to approximately 8%, of normal levels several years after clinical manifestation of the acute hepatic porphyria syndrome. Urinary excretions of delta-aminolaevulinic acid and coproporphyrin III were excessively increased in the two patients with compound-heterozygous delta-aminolaevulinic acid dehydratase deficiency porphyria.