Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.


The diagnosis of acute intermittent porphyria was made in 10 members of a large kindred because of increased excretion of porphobilinogen and delta-aminolevulinic acid in the urine but normal fecal porphyrins. Erythrocyte uroporphyrinogen I synthase activity was normal in all nine subjects in whom it was measured. No hematologic or other cause was found… (More)


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