Studies in Porphyria: VII. INDUCTION OF UROPORPHYRINOGEN-I SYNTHASE AND EXPRESSION OF THE GENE DEFECT OF ACUTE INTERMITTENT PORPHYRIA IN MITOGEN-STIMULATED HUMAN LYMPHOCYTES

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Abstract

A 50% reduction in the activity of uroporphyrinogen-I (URO) synthase in liver, erythrocytes, and cultured skin fibroblasts characterizes all patients with clinically active acute intermittent porphyria (AIP). The same enzyme defect has also been demonstrated in the erythrocytes and skin fibroblasts of completely latent gene carriers of this disorder and presumably exists in the liver as well.

Authors

Shigeru Sassa, Gregory L. Zalar, Attallah Kappas