一种用于诊断腺苷酸琥珀酸裂解酶缺乏症的新诊断技术。
A new diagnostic technique for adenylosuccinate lyase deficiency.
作者信息
Domkin V D, Lazebnik T A, Smirnov M N
机构信息
Laboratory of Biochemical Genetics, St Petersburg University, Russia.
出版信息
J Inherit Metab Dis. 1995;18(3):291-4. doi: 10.1007/BF00710417.
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.
本文描述了一种便捷、简单的诊断腺苷酸琥珀酸裂解酶（ASL）缺乏症的方法。该方法包括：（1）用阳离子交换树脂分离SAICA核苷和S-腺苷；（2）测量氨洗脱液在270和250nm处的紫外吸光度；（3）计算A270/A250比值。如果该比值小于0.45，则患者的ASL活性水平正常。如果该比值大于0.70，则患者患有ASL缺乏症。
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