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  • Title: A new diagnostic technique for adenylosuccinate lyase deficiency.
    Author: Domkin VD, Lazebnik TA, Roudneff AYu, Smirnov MN.
    Journal: J Inherit Metab Dis; 1995; 18(3):291-4. PubMed ID: 7474894.
    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.
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