CAPILLARY ELECTROPHORESIS FOR SCREENING OF ADENYLOSUCCINATE LYASE DEFICIENCY

We report a new screening method for adenylosuccinate lyase (ASase) de ficiency using capillary electrophoresis (CE). This enzyme defect caus es 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 succ inylaminoimidazole carboxamide (SAICA) riboside. A Beckman P/ACE 2050 capillary electrophoresis system was used with a 47.1 cm capillary, 75 mu m ID, and the P/ACE Beckman UV absorbance detector. Untreated urin e, injected for 1 s, was separated in a pH 8.63 berate buffer at 20 kV . The two succinylpurines (migration times 13.36 and 13.60 min) were d etected at 254 nm only in urine of patients with ASase deficiency but not in control samples.