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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Authors | V D Domkin, T A Lazebnik, Roudneff AYu, M N Smirnov |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 18
Issue 3
Pg. 291-4
( 1995)
ISSN: 0141-8955 [Print] United States |
PMID | 7474894
(Publication Type: Journal Article)
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Chemical References |
- Ribonucleosides
- succinylaminoimidazole carboxamide riboside
- adenylosuccinate
- Aminoimidazole Carboxamide
- Adenosine Monophosphate
- Adenylosuccinate Lyase
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Topics |
- Adenosine Monophosphate
(analogs & derivatives, urine)
- Adenylosuccinate Lyase
(deficiency)
- Aminoimidazole Carboxamide
(analogs & derivatives, urine)
- Chromatography, Ion Exchange
- Humans
- Infant
- Infant, Newborn
- Purine-Pyrimidine Metabolism, Inborn Errors
(enzymology)
- Ribonucleosides
(urine)
- Spectrophotometry, Ultraviolet
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