Literature DB >> 869896

Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population.

L A Johnson, R B Gordon, B T Emmerson.   

Abstract

The significance of partial deficiency of erythrocyte adenine phosphoribosyltransferase (APRT), reported in a number of subjects with gout, has been investigated by studying its incidence in 700 normal blood donors. Three clearly deficient subjects were found, an incidence not significantly different from that in patients with abnormalities of urate metabolism. A new assay method for APRT is described in which an erythrocyte lysate is incubated with adenine and phosphoribosylpyrophosphate (PRPP) for a given time; both hemoglobin and adenine nucleotide (AMP) are then precipitated with lanthanum phosphate; the change in absorbance of adenine at 260 nm reflects the extent of its conversion to AMP by APRT.

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Year:  1977        PMID： 869896     DOI： 10.1007/bf00484458

Source DB:  PubMed          Journal:  Biochem Genet        ISSN： 0006-2928            Impact factor:   1.890


  9 in total

1.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

2.  A spectrophotometric assay for hypoxanthine-guanine phosphoribosyltransferase.

Authors:  D S Newcombe; J M Willard
Journal:  Anal Biochem       Date:  1971-10       Impact factor: 3.365

3.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

4.  Adenine phosphoribosyltransferase deficiency in man. Report of a second family.

Authors:  I H Fox; J C Meade; W N Kelley
Journal:  Am J Med       Date:  1973-11       Impact factor: 4.965

5.  [A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].

Authors:  P Cartier; M Hamet; J Hamburger
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1974-09

6.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

7.  Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.

Authors:  W N Kelley; R I Levy; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  J Clin Invest       Date:  1968-10       Impact factor: 14.808

8.  Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease.

Authors:  B T Emmerson; R B Gordon; L Thompson
Journal:  Aust N Z J Med       Date:  1975-10

9.  Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  B T Emmerson; J B Wyngaarden
Journal:  Science       Date:  1969-12-19       Impact factor: 47.728
  9 in total
  11 in total

Review 1.  Genetic determinants of urolithiasis.

Authors:  Carla G Monico; Dawn S Milliner
Journal:  Nat Rev Nephrol       Date:  2011-12-20       Impact factor: 28.314

2.  Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

Authors:  Y Hidaka; S A Tarlé; S Fujimori; N Kamatani; W N Kelley; T D Palella
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

3.  Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Authors:  Guillaume Bollée; Cécile Dollinger; Lucile Boutaud; Delphine Guillemot; Albert Bensman; Jérôme Harambat; Patrice Deteix; Michel Daudon; Bertrand Knebelmann; Irène Ceballos-Picot
Journal:  J Am Soc Nephrol       Date:  2010-02-11       Impact factor: 10.121

4.  Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Authors:  F Takeuchi; K Matsuta; T Miyamoto; S Enomoto; S Fujimori; I Akaoka; N Kamatani; K Nishioka
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

Authors:  Y Hidaka; T D Palella; T E O'Toole; S A Tarlé; W N Kelley
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

6.  Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.

Authors:  N Kamatani; C Terai; S Kuroshima; K Nishioka; K Mikanagi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

7.  Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

Authors:  S Fujimori; I Akaoka; K Sakamoto; H Yamanaka; K Nishioka; N Kamatani
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation.

Authors:  Italia Perruzza; Valentina Di Pietro; Barbara Tavazzi; Giuseppe Lazzarino; Marco Gamberini; Paola Barsotti; Angela Maria Amorini; Bruno Giardina; Alessandro Balducci
Journal:  NDT Plus       Date:  2008-06-19

9.  Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.

Authors:  Gowrie S Balasubramaniam; Monica Arenas-Hernandez; Emilia Escuredo; Lynette Fairbanks; Tony Marinaki; Sarah Mapplebeck; Michael Sheaff; Michael K Almond
Journal:  Clin Kidney J       Date:  2016-10-03

Review 10.  Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria.

Authors:  Guillaume Bollée; Pierre Cochat; Michel Daudon
Journal:  Can J Kidney Health Dis       Date:  2015-09-15
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