Demonstration of hereditary enzyme defect in coproporphyria
Grandchamp, B.; Phung, N.; Grelier, M.; de Verneuil, H.; Noiré, J.; Ohnet, J.P.; Nordmann, Y.
La Nouvelle Presse Medicale 6(18): 1537-1539
1977
ISSN/ISBN: 0301-1518 PMID: 866144 Document Number: 117956
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 oxidase activity reflects the primary genetic defect in Hereditary Coproporphyria. The technique described allows easy detection of asymptomatic carriers.