Literature DB >> 7327566

The inherited enzymatic defect in porphyria variegata.

J C Deybach, H de Verneuil, Y Nordmann.   

Abstract

Protoporphyrinogen oxidase activity and ferrochelatase activity have been measured in blood lymphocytes from patients with prophyria variegata, and from some members of the family of one patient; the mean activity of protoporphyrinogen oxidase from patients was about 50% of that in lymphocytes from normal subjects; similar results were obtained from asymptomatic carriers in two generations of the patient's family. This finding confirms that a protoporphyrinogen oxidase decreased activity reflects the primary genetic defect in Porphyria Variegata. Data of ferrochelatase activity have been found usually in the normal range and these results are discussed.

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Year:  1981        PMID： 7327566     DOI： 10.1007/bf00282829

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


  15 in total

1.  Reduced ferrochelatase activity: a defect common to porphyria variegata and protoporphyria.

Authors:  D M Becker; J D Viljoen; J Katz; S Kramer
Journal:  Br J Haematol       Date:  1977-06       Impact factor: 6.998

2.  Enzymatic defects in hepatic porphyria. Preliminary observations in patients with porphyria cutanea tarda and variegate porphyria.

Authors:  N R Pimstone; G Blekkenhorst; L Eales
Journal:  Enzyme       Date:  1973

3.  Characterization and measurement of heme synthetase in normal human bone marrow.

Authors:  S S Bottomley
Journal:  Blood       Date:  1968-03       Impact factor: 22.113

4.  Separation of leukocytes from blood and bone marrow. Introduction.

Authors:  A Böyum
Journal:  Scand J Clin Lab Invest Suppl       Date:  1968

5.  Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria.

Authors:  B Grandchamp; Y Nordmann
Journal:  Biochem Biophys Res Commun       Date:  1977-02-07       Impact factor: 3.575

6.  The primary enzyme defect in hereditary coproporphyria.

Authors:  G H Elder; J O Evans; N Thomas
Journal:  Lancet       Date:  1976-12-04       Impact factor: 79.321

7.  Enzyme abnormalities in the porphyrias.

Authors:  M J Brodie; M R Moore; A Goldberg
Journal:  Lancet       Date:  1977-10-01       Impact factor: 79.321

8.  Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.

Authors:  D J Viljoen; E Cayanis; D M Becker; S Kramer; B Dawson; R Bernstein
Journal:  Am J Hematol       Date:  1979       Impact factor: 10.047

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.  Heme biosynthesis in intermittent acute prophyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity.

Authors:  L J Strand; B F Felsher; A G Redeker; H S Marver
Journal:  Proc Natl Acad Sci U S A       Date:  1970-11       Impact factor: 11.205
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  18 in total

1.  Identification of a gene essential for protoporphyrinogen IX oxidase activity in the cyanobacterium Synechocystis sp. PCC6803.

Authors:  Kazushige Kato; Ryouichi Tanaka; Shinsuke Sano; Ayumi Tanaka; Hideo Hosaka
Journal:  Proc Natl Acad Sci U S A       Date:  2010-09-07       Impact factor: 11.205

2.  Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.

Authors:  Manuel Méndez; Barbara X Granata; María J Morán Jiménez; Victoria E Parera; Alcira Batlle; Rafael Enríquez de Salamanca; María V Rossetti
Journal:  JIMD Rep       Date:  2011-12-06

3.  Characterization of variegate porphyria mutations using a minigene approach.

Authors:  Barbara Xoana Granata; Marco Baralle; Laura De Conti; Victoria Parera; Maria Victoria Rossetti
Journal:  JIMD Rep       Date:  2015-02-01

4.  Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study.

Authors:  K Timonen; K M Niemi; P Mustajoki; R Tenhunen
Journal:  Arch Dermatol Res       Date:  1990       Impact factor: 3.017

5.  Crystal structure of protoporphyrinogen oxidase from Myxococcus xanthus and its complex with the inhibitor acifluorfen.

Authors:  Hazel R Corradi; Anne V Corrigall; Ester Boix; C Gopi Mohan; Edward D Sturrock; Peter N Meissner; K Ravi Acharya
Journal:  J Biol Chem       Date:  2006-10-17       Impact factor: 5.157

6.  Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme.

Authors:  T A Dailey; H A Dailey
Journal:  Protein Sci       Date:  1996-01       Impact factor: 6.725

7.  Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria.

Authors:  P Meissner; P Adams; R Kirsch
Journal:  J Clin Invest       Date:  1993-04       Impact factor: 14.808

8.  Haem arginate improves hepatic oxidative metabolism in variegate porphyria.

Authors:  O Tokola; P Mustajoki; J J Himberg
Journal:  Br J Clin Pharmacol       Date:  1988-12       Impact factor: 4.335

9.  Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).

Authors:  Sonya Dragneva; Monika Szyszka-Niagolov; Aneta Ivanova; Lyudmila Mateva; Rumiko Izumi; Yoko Aoki; Yoichi Matsubara
Journal:  JIMD Rep       Date:  2014-07-06

10.  Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.

Authors:  S Tutois; X Montagutelli; V Da Silva; H Jouault; P Rouyer-Fessard; K Leroy-Viard; J L Guénet; Y Nordmann; Y Beuzard; J C Deybach
Journal:  J Clin Invest       Date:  1991-11       Impact factor: 14.808
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