Abstract
Inherited adenylosuccinase deficiency, a 'new' defect of de novo purine synthesis and nucleotide interconversion has been associated with psychomotor retardation and autistic behavior (1). Biochemical features were: excessive urinary excretion of succinyl-aminoimidazole carboxamide riboside (SAICAR) and succinyladenosine (SAdo). We found that SAICAR can easily be detected by our 2-dim. tlc in use for the screening of abnormal urinary imidazoles. The method consists of 1: isolation of imidazoles (together with amino-acids and purines 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-brown color. Xanthinuria and PNP deficiency can also be detected with this system. Confirmative quantitative analysis of SAICAR and SAdo can be done by HPLC.
Three new cases could be diagnosed: a one-year-old girl with neurological problems, her elder brother with psychomotor retardation and epilepsy and a ten-year-old girl with severe mental retardation and neurological problems. Chemical and clinical data will be presented.
1. J. Jaeken, G. Van den Berghe: Lancet II(1984) 1058-1061.
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Wadman, S., De Bree, P., Duran, M. et al. DETECTION OF INHERITED ADENYLOSUCCINASE DEFICIENCY BY 2-DIM. THIN LAYER CHROMATOGRAPHY OF URINARY IMIDAZOLES: 224. Pediatr Res 19, 781 (1985). https://doi.org/10.1203/00006450-198507000-00244
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DOI: https://doi.org/10.1203/00006450-198507000-00244