Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1978 Oct 31;44(2):145-51.
doi: 10.1007/BF00295407.

Familial and sporadic porphyria cutanea: two different diseases

H de Verneuil, G Aitken, Y Nordmann

Familial and sporadic porphyria cutanea: two different diseases

H de Verneuil et al. Hum Genet. .

Abstract

Uroporphyrinogen (URO) decarboxylase was measured in hemoglobin-free erythrocytes from subjects with familial porphyria cutanea: the mean activity was about 50% of that found in erythrocytes from normal subjects. Asymptomatic carriers were always found in the family. No enzyme deficiency was found in erythrocytes from subjects with sporadic porphyria cutanea. The measurement of URO decarboxylase in erythrocytes seems to allow an easy distinction between these two groups of porphyria cutanea.

PubMed Disclaimer

References

    1. Biochem J. 1972 Feb;126(4):877-91 - PubMed
    1. J Clin Invest. 1962 Jun;41:1257-62 - PubMed
    1. Hum Genet. 1977 Dec 23;39(3):261-76 - PubMed
    1. Clin Chim Acta. 1974 Dec 17;57(3):297-300 - PubMed
    1. Semin Hematol. 1977 Apr;14(2):227-42 - PubMed

Substances