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Characterization of Deficient Heme Synthase Activity in Protoporphyria with Cultured Skin Fibroblasts
Joseph R. Bloomer
Joseph R. Bloomer
Published February 1, 1980
Citation Information: J Clin Invest. 1980;65(2):321-328. https://doi.org/10.1172/JCI109675.
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Research Article

Characterization of Deficient Heme Synthase Activity in Protoporphyria with Cultured Skin Fibroblasts

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Abstract

Heme synthase (ferrochelatase) activity, as determined by the chelation of ferrous iron to protoporphyrin or deuteroporphyrin, is reduced to 10-25% of normal in tissues of patients with protoporphyria. With cultured skin fibroblasts from seven patients with protoporphyria and six normal individuals, the present studies examined the enzymatic defect.

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Joseph R. Bloomer

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