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The primary enzyme defect in hereditary coproporphyria

, : The primary enzyme defect in hereditary coproporphyria. Lancet 2(7997): 1217-1219

The activity of coproporphyrinogen oxidase (E.C. in cultured skin fibroblasts from three patients with hereditary coproporphyria (H.C.) was approximately half that in fibroblasts from normal subjects and patients with other types of porphyria. It is suggested that this is the primary defect in H.C., which is inherited as an autosomal dominant, and that the same abnormality is present in the liver. Consideration of the probable relative activities of the enzymes of haem biosynthesis in the liver in H.C. suggests that the acute attacks of porphyria which are its major clinical manifestation occur when the activity of uroporphyrinogen-I-synthase (E.C. becomes rate-limiting for haem synthesis.

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Accession: 038991655

PMID: 63041

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Related references

Grandchamp, B.; Phung, N.; Grelier, M.; de Verneuil, H.; Noiré, J.; Ohnet, J.P.; Nordmann, Y., 1977: Demonstration of hereditary enzyme defect in coproporphyria. We measured lymphocytes Coproporphyrinogen III Oxidase activity in 17 subjects with hereditary coproporphyria. The mean activity was about 50% of that in lymphocytes from normal subjects. This finding suggests that decreased coproporphyrinogen III...

Kiso, S.; Kawata, S.; Kashihara, T.; Tamura, S.; Matsuzawa, Y., 1995: Hereditary coproporphyria (Hepatic coproporphyria), Erythropoietic coproporphyria. Hereditary coproporphyria (Hepatic coproporphyria: HCP); HCP is the rarest and least recognized among hepatic porphyrias and is characterised by an excess of faecal and urinary excretion of coproporphyrin (mainly isomer III). The deficiency is in...

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