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

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.

[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency]. / Un cas de maladie de maroteaux-lamy decouvert precocement.

The absence of aryl sulphatase B (Maroteaux-Lamy syndrome) has been confirmed in a five month old child. The estimation of urine mucopolysaccharides and enzyme studies on cultured fibroblasts were performed at an early stage.