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

• Published in: Advances in experimental medicine and biology Vol. 195 Pt A; p. 21
• Main Authors: Wadman, S K, de Bree, P K, Duran, M, de Jonge, H F
• Format: Journal Article
• Language: English
• Published: United States 1986
• Subjects: Adenosine - analogs & derivatives; Adenosine - urine; Adenylosuccinate Lyase - deficiency; Aminoimidazole Carboxamide - analogs & derivatives; Aminoimidazole Carboxamide - urine; Child; Chromatography, Thin Layer - methods; Female; Humans; Infant; Infant, Newborn; Lyases - deficiency; Male; Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis; Purine-Pyrimidine Metabolism, Inborn Errors - urine; Ribonucleosides - urine
• ISSN: 0065-2598
• DOI: 10.1007/978-1-4684-5104-7_3

Patients with inherited adenylosuccinase deficiency excrete large quantities of succinyloaminoimidazolecarboxamide riboside (SAICAR) and succinyloadenosine (SAdo). A two dimensional thin layer chromatography method for the detection of SAICAR is described. The method consists of 1: isolation of imidazoles with a cation exchange resin; 2: tlc on cellulose plates, solvent I: isopropanol-ammonia 10% (4:1) and II: butanol-acetic acid-water (4:1:1); detection with Pauly reagent. SAICAR gives rise to an isolated spot with a characteristic bluish color. Also a simple one dimensional thin layer chromatography method for screening of high risk populations is given. Four new cases could be diagnosed. Clinical and chemical data, including concentrations of SAICAR and SAdo in urine, plasma and cerebrospinal fluid, determined by column chromatography, are presented.