[Demonstration of hereditary enzyme defect in coproporphyria].

Abstract

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.

• Authors: B Grandchamp, N Phung, M Grelier, H de Verneuil, J Noiré, J P Ohnet, Y Nordmann
• Journal: La Nouvelle presse medicale (Nouv Presse Med) Vol. 6 Issue 18 Pg. 1537-9 (Apr 30 1977) ISSN: 0301-1518 [Print] France
• Vernacular Title: Mise en évidence du déficit enzymatique héréditaire dans la coproporphyrie
• PMID: 866144 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Coproporphyrins
• Protoporphyrins
• Oxidoreductases

Topics

• Adolescent
• Adult
• Aged
• Coproporphyrins (analysis)
• Female
• Humans
• Lymphocytes (enzymology)
• Male
• Oxidoreductases (deficiency)
• Pedigree
• Porphyrias (diagnosis, enzymology, genetics)
• Porphyrias, Hepatic
• Protoporphyrins (analysis)