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Clinical Chemistry 26: 1182-1185, 1980;
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Clinical Chemistry, Vol 26, 1182-1185, Copyright © 1980 by American Association for Clinical Chemistry

Assay for erythrocyte uroporphyrinogen I synthase activity, with porphobilinogen as substrate

RE Ford, CN Ou and RD Ellefson

We describe a convenient, economical procedure for measuring uroporphyrinogen I synthase (EC 4.3 1.8) activity in erythrocytes, the results of which can be used to diagnose acute intermittent porphyria, in either its latent or acute stage. By limiting the test reaction sequence to the conversion of porphobilinogen to porphyrins, we eliminated several disadvantages of alternative methods in which delta- aminolevulinate is used as substrate. The latter assay was inhibited by lead; our procedure was not. Our procedure also gave greater porphyrin synthesis with less substrate. Erythrocytes of healthy women presented a mean activity of 12.4 nmol of porphyrin formed per liter per second; erythrocytes of healthy men presented a mean activity of 11.0 nmol/L per second. The within-run coefficient of variation (CV) for our assay was 1.8%; the between-run CV was 3.1%.




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