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Research Article Free access | 10.1172/JCI107068

Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria

L. James Strand, Urs A. Meyer, Bertram F. Felsher, Allan G. Redeker, and Harvey S. Marver

Department of Internal Medicine, University of Texas Southwestern Medical School at Dallas, Dallas, Texas 75235

Department of Medicine, University of Southern California School of Medicine, Los Angeles, California 90007

Find articles by Strand, L. in: JCI | PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical School at Dallas, Dallas, Texas 75235

Department of Medicine, University of Southern California School of Medicine, Los Angeles, California 90007

Find articles by Meyer, U. in: JCI | PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical School at Dallas, Dallas, Texas 75235

Department of Medicine, University of Southern California School of Medicine, Los Angeles, California 90007

Find articles by Felsher, B. in: JCI | PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical School at Dallas, Dallas, Texas 75235

Department of Medicine, University of Southern California School of Medicine, Los Angeles, California 90007

Find articles by Redeker, A. in: JCI | PubMed | Google Scholar

Department of Internal Medicine, University of Texas Southwestern Medical School at Dallas, Dallas, Texas 75235

Department of Medicine, University of Southern California School of Medicine, Los Angeles, California 90007

Find articles by Marver, H. in: JCI | PubMed | Google Scholar

Published October 1, 1972 - More info

Published in Volume 51, Issue 10 on October 1, 1972
J Clin Invest. 1972;51(10):2530–2536. https://doi.org/10.1172/JCI107068.
© 1972 The American Society for Clinical Investigation
Published October 1, 1972 - Version history
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Abstract

Intermittent acute porphyria has recently been distinguished biochemically from other genetic hepatic porphyrias by the observation of diminished hepatic uroporphyrinogen I synthetase activity and increased δ-aminolevulinic acid synthetase activity. Since deficient uroporphyrinogen I synthetase may be reflected in nonhepatic tissues, we have assayed this enzyme in red cell hemolysates from nonporphyric subjects and from patients with genetic hepatic porphyria. Only patients with intermittent acute porphyria had decreased erythrocyte uroporphyrinogen I synthetase activity which was approximately 50% of normal. The apparent Km of partially purified uroporphyrinogen I synthetase was 6 × 10−6m in both nonporphyrics and patients with intermittent acute porphyria. These data provide further evidence for a primary mutation affecting uroporphyrinogen I synthetase in intermittent acute porphyria. Further-more, results of assay of red cell uroporphyrinogen I synthetase activity in a large family with intermittent acute porphyria suggest that this test may be a reliable indicator of the heterozygous state.

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