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Citations to this article

An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
J P Kushner, … , A J Barbuto, G R Lee
J P Kushner, … , A J Barbuto, G R Lee
Published November 1, 1976
Citation Information: J Clin Invest. 1976;58(5):1089-1097. https://doi.org/10.1172/JCI108560.
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An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.

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Abstract

Uroporphyrinogen decarboxylase activity was measured in liver and erythrocytes of normal subjects and in patients with porphyria cutanea tarda and their relatives. In patients with porphyria cutanea tarda, hepatic uroporphyrinogen decarboxylase activity was significantly reduced (mean 0.43 U/mg protein; range 0.25-0.99) as compared to normal subjects (mean 1.61 U/mg protein; range 1.27-2.42). Erythrocyte uroporphyrinogen decarboxylase was also decreased in patients with porphyria cutanea tarda. The mean erythrocyte enzymatic activity in male patients was 0.23 U/mg Hb (range 0.16-0.30) and in female patients was 0.17 U/mg Hb (range 0.15-0.18) as compared with mean values in normal subjects of 0.38 U/mg Hb (range 0.33-0.45) in men and 0.26 U/mg Hb (range 0.18-0.36) in women. With the erythrocyte assay, multiple examples of decreased uroporphyrinogen decarboxylase activity were detected in members of three families of patients with porphyria cutanea tarda. In two of these families subclinical porphyria was also recognized. The inheritance pattern was consistant with an autosomal dominant trait. The difference in erythrocyte enzymatic activity between men and women was not explained but could have been due to estrogens. This possibility was supported by the observation that men under therapy with estrogens for carcinoma of the prostate had values in the normal female range. It is proposed that porphyria cutanea tarda results from the combination of an inherited defect in uroporphyrinogen decarboxylase and an acquired factor, usually siderosis associated with alcoholic liver disease.

Authors

J P Kushner, A J Barbuto, G R Lee

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Total citations by year

Year: 2022 2020 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2007 2006 2005 2003 2002 2001 2000 1998 1997 1996 1995 1994 1993 1992 1991 1990 1989 1988 1987 1986 1985 1984 1983 1982 1981 1980 1979 1978 1977 1959 1945 Total
Citations: 2 2 2 1 2 1 1 1 1 1 1 1 2 3 1 3 4 1 4 7 1 2 5 2 2 4 3 7 9 9 12 10 10 13 12 13 15 19 8 12 4 1 1 215
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Citations to this article in year 2009 (1)

Title and authors Publication Year
Co-factors in liver disease: The role of HFE-related hereditary hemochromatosis and iron
DF Wallace, VN Subramaniam
Biochimica et Biophysica Acta (BBA) - General Subjects 2009

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