Literature DB >> 730158

Familial and sporadic porphyria cutanea: two different diseases.

H de Verneuil, G Aitken, Y Nordmann.   

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.

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Year:  1978        PMID： 730158     DOI： 10.1007/bf00295407

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

1.  Erythrocyte metabolism. VI. Separation of erythrocyte enzymes from hemoglobin.

Authors:  M A HENNESSEY; A M WALTERSDORPH; F M HUENNEKENS; B W GABRIO
Journal:  J Clin Invest       Date:  1962-06       Impact factor: 14.808

2.  The effect of the porphyrogenic compound, hexachlorobenzene, on the activity of hepatic uroporphyrinogen decarboxylase in the rat.

Authors:  G H Elder; J O Evans; S A Matlin
Journal:  Clin Sci Mol Med       Date:  1976-07

Review 3.  Porphyrin metabolism in porphyria cutanea tarda.

Authors:  G H Elder
Journal:  Semin Hematol       Date:  1977-04       Impact factor: 3.851

4.  The simultaneous separation and washing of erythrocytes.

Authors:  C Blincoe
Journal:  Clin Chim Acta       Date:  1974-12-17       Impact factor: 3.786

5.  Porphyrin biosynthesis. VII. Porphyrinogen carboxy-lyase from avian erythrocytes. Purification and properties.

Authors:  J M Tomio; R C García; L C San Martín de Viale; M Grinstein
Journal:  Biochim Biophys Acta       Date:  1970-02-11

6.  Studies of the uroporphyrins. III. An improved method for the decarboxylation of uroporphyrin.

Authors:  P R EDMONDSON; S SCHWARTZ
Journal:  J Biol Chem       Date:  1953-12       Impact factor: 5.157

Review 7.  Enzymatic defects of hereditary porphyrias: an explanation of dominance at the molecular level.

Authors:  G Romeo
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

8.  Identification of a group of tetracarboxylate porphyrins, containing one acetate and three propionate -substituents, in faeces from patients with symptomatic cutaneous hepatic porphyria and from rats with porphyria due to hexachlorobenzene.

Authors:  G H Elder
Journal:  Biochem J       Date:  1972-02       Impact factor: 3.857

9.  An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.

Authors:  J P Kushner; A J Barbuto; G R Lee
Journal:  J Clin Invest       Date:  1976-11       Impact factor: 14.808

10.  Porphyrins and porphyrinogen carboxy-lase in hexachlorobenzene-induced porphyria.

Authors:  L C San Martín De Viale; M D Ríos De Molina; R W De Calmanovici; J M Tomio
Journal:  Biochem J       Date:  1977-12-15       Impact factor: 3.857
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  26 in total

1.  The effects in vivo of mutationally modified uroporphyrinogen decarboxylase in different hem12 mutants of baker's yeast (Saccharomyces cerevisiae).

Authors:  A Kurlandzka; T Zoladek; J Rytka; R Labbe-Bois; D Urban-Grimal
Journal:  Biochem J       Date:  1988-07-01       Impact factor: 3.857

2.  The genetic basis of porphyria cutanea tarda.

Authors:  R Enriquez de Salamanca; A Olmos; M L Peña; L Berges; J Perpiñá
Journal:  Arch Dermatol Res       Date:  1985       Impact factor: 3.017

3.  Isolation, sequencing and expression of cDNA sequences encoding uroporphyrinogen decarboxylase from tobacco and barley.

Authors:  H P Mock; L Trainotti; E Kruse; B Grimm
Journal:  Plant Mol Biol       Date:  1995-05       Impact factor: 4.076

Review 4.  Uroporphyrinogen decarboxylase.

Authors:  G H Elder; A G Roberts
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

5.  Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

Authors:  H de Verneuil; C Beaumont; J C Deybach; Y Nordmann; Z Sfar; R Kastally
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

6.  Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay.

Authors:  H de Verneuil; B Grandchamp; C Foubert; D Weil; V C N'Guyen; M S Gross; S Sassa; Y Nordmann
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

Authors:  M Mendez; L Sorkin; M V Rossetti; K H Astrin; A M del C Batlle; V E Parera; G Aizencang; R J Desnick
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

8.  Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population.

Authors:  L D'Alessandro; D Griso; G Biolcati; A Macrì; G C Topi
Journal:  Arch Dermatol Res       Date:  1992       Impact factor: 3.017

9.  Mechanism of hexachlorobenzene-induced porphyria in rats. Effect of phenobarbitone pretreatment.

Authors:  R Wainstok de Calmanovici; M C Ríos de Molina; M C Taira de Yamasato; J M Tomio; L C San Martin de Viale
Journal:  Biochem J       Date:  1984-03-15       Impact factor: 3.857

10.  Effects of polychlorinated biphenyl compounds, 2,3,7,8-tetrachlorodibenzo-p-dioxin, phenobarbital and iron on hepatic uroporphyrinogen decarboxylase. Implications for the pathogenesis of porphyria.

Authors:  H De Verneuil; S Sassa; A Kappas
Journal:  Biochem J       Date:  1983-07-15       Impact factor: 3.857
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