Literature DB >> 7474894

A new diagnostic technique for adenylosuccinate lyase deficiency.

V D Domkin1, T A Lazebnik, M N Smirnov.   

Abstract

A convenient and simple method of diagnosing adenylosuccinate lyase (ASL) deficiency is described. This method consists of (1) isolation of SAICA riboside and S-Ado with a cation exchange resin; (2) measurement of the UV absorbance of the ammonia eluate at 270 and 250 nm; (3) calculation of the A270/A250 ratio. If the value of this ratio is less than 0.45, the patient has a normal level of ASL activity. If the value of this ratio is greater than 0.70, the patient has ASL deficiency.

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Year:  1995        PMID： 7474894     DOI： 10.1007/bf00710417

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Biosynthesis of the purines. XXIII. The enzymatic synthesis of N-(5-amino-1-ribosyl-4-imidazolylcarbonyl)-L-aspartic acid 5'-phosphate.

Authors:  L N LUKENS; J M BUCHANAN
Journal:  J Biol Chem       Date:  1959-07       Impact factor: 5.157

2.  The preparation and properties of adenylosuccinase and adenylosuccinic acid.

Authors:  C E CARTER; L H COHEN
Journal:  J Biol Chem       Date:  1956-09       Impact factor: 5.157

3.  Urine test for adenylosuccinase deficiency in autistic children.

Authors:  J Maddocks; T Reed
Journal:  Lancet       Date:  1989-01-21       Impact factor: 79.321

4.  Screening for inborn errors of purine synthesis.

Authors:  J Jaeken; G van den Berghe
Journal:  Lancet       Date:  1989-03-04       Impact factor: 79.321

5.  Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.

Authors:  P K Laikind; J E Seegmiller; H E Gruber
Journal:  Anal Biochem       Date:  1986-07       Impact factor: 3.365

6.  An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.

Authors:  J Jaeken; G Van den Berghe
Journal:  Lancet       Date:  1984-11-10       Impact factor: 79.321

7.  Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

Authors:  J Jaeken; S K Wadman; M Duran; F J van Sprang; F A Beemer; R A Holl; P M Theunissen; P de Cock; F van den Bergh; M F Vincent
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

8.  Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.

Authors:  P K de Bree; S K Wadman; M Duran; H Fabery de Jonge
Journal:  Clin Chim Acta       Date:  1986-05-15       Impact factor: 3.786

9.  Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.

Authors:  S K Wadman; P K de Bree; M Duran; H F de Jonge
Journal:  Adv Exp Med Biol       Date:  1986       Impact factor: 2.622
  9 in total
  2 in total

Review 1.  Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.

Authors:  G Van den Berghe; M F Vincent; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 2.  Adenylosuccinate lyase deficiency.

Authors:  Agnieszka Jurecka; Marie Zikanova; Stanislav Kmoch; Anna Tylki-Szymańska
Journal:  J Inherit Metab Dis       Date:  2014-08-12       Impact factor: 4.982
  2 in total

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