COEXISTENCE OF HEREDITARY COPROPORPHYRIA WITH ACUTE INTERMITTENT PORPHYRIA

A new form of acute hepatic porphyria with double genetic defect - def iciency of porphobilinogen deaminase and coproporphyrinogen oxidase - is described. Among 17 studied family members this double enzymatic de ficiency was found in five individuals, deficiency of porphobilinogen deaminase in four, and deficiency of coproporphyrinogen oxidase in two . Only the proband had an attack of porphyria. Apart from the proband, all family members had normal urinary PBG excretion. Increased faecal coproporphyrin excretion was found in three people. The results obtai ned suggest that deficiency of porphobilinogen deaminase and coproporp hyrinogen oxidase can be inherited independently.