PMID: 8586067Oct 1, 1995Paper

Capillary electrophoresis for screening of adenylosuccinate lyase deficiency

Electrophoresis
M GrossU Gresser

Abstract

We report a new screening method for adenylosuccinate lyase (ASase) deficiency using capillary electrophoresis (CE). This enzyme defect causes secondary autism and psychomotor retardation in early childhood. In all body fluids of these patients, two succinylpurine metabolites can be found that are normally not detectable: succinyladenosine and succinylaminoimidazole carboxamide (SAICA) riboside. A Beckman P/ACE 2050 capillary electrophoresis system was used with a 47.1 cm capillary, 75 microns ID, and the P/ACE Beckman UV absorbance detector. Untreated urine, injected for 1 s, was separated in a pH 8.63 borate buffer at 20 kV. The two succinylpurines (migration times 13.36 and 13.60 min) were detected at 254 nm only in urine of patients with ASase deficiency but not in control samples.

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Citations

Feb 10, 1998·Electrophoresis·F von Heeren, W Thormann
Oct 29, 1997·Journal of Chromatography. B, Biomedical Sciences and Applications·R LehmannH M Liebich
May 29, 1999·Journal of Chromatography. B, Biomedical Sciences and Applications·J KrijtI Sebesta
Mar 12, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Tomás AdamDavid Friedecký
Jun 6, 2008·Molecular Genetics and Metabolism·Agnieszka JureckaEwa Pronicka
Oct 3, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Petr HornikTomás Adam
Dec 2, 2004·Nucleosides, Nucleotides & Nucleic Acids·F CarlucciE Marinello
Jun 8, 2001·Journal of Child Neurology·F CiardoP Curatolo
Dec 6, 2011·Journal of Child Neurology·Agnieszka JureckaAnna Tylki-Szymańska
Aug 13, 2014·Journal of Inherited Metabolic Disease·Agnieszka JureckaAnna Tylki-Szymańska
Oct 28, 2003·Clinical Chemistry·Filippo CarlucciEnrico Marinello
Jun 1, 1997·Journal of Inherited Metabolic Disease·G Van den BergheJ Jaeken
Jun 15, 1997·Analytical Chemistry·D J AndersonK A Davis
Jun 17, 1999·Annals of Clinical Biochemistry·D Perrett

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