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Published on: January 5, 2016
A new diagnostic technique for adenylosuccinate lyase deficiency
V D Domkin1, T A Lazebnik, Roudneff AYu
1Laboratory of Biochemical Genetics, St Petersburg University, Russia.
Journal of Inherited Metabolic Disease
|January 1, 1995
Abstract:
A convenient and simple method of diagnosing adenylosuccinate lyase (ASL) deficiency is described. This method consists of (1) isolation of SAICA riboside and S-Ado with a cation exchange resin; (2) measurement of the UV absorbance of the ammonia eluate at 270 and 250 nm; (3) calculation of the A270/A250 ratio. If the value of this ratio is less than 0.45, the patient has a normal level of ASL activity. If the value of this ratio is greater than 0.70, the patient has ASL deficiency.
