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.
MeSH terms
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Adenosine Monophosphate / analogs & derivatives
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Adenosine Monophosphate / urine
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Adenylosuccinate Lyase / deficiency*
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Aminoimidazole Carboxamide / analogs & derivatives
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Aminoimidazole Carboxamide / urine
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Chromatography, Ion Exchange
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Humans
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Infant
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Infant, Newborn
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Purine-Pyrimidine Metabolism, Inborn Errors / enzymology*
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Ribonucleosides / urine
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Spectrophotometry, Ultraviolet
Substances
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Ribonucleosides
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succinylaminoimidazole carboxamide riboside
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adenylosuccinate
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Aminoimidazole Carboxamide
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Adenosine Monophosphate
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Adenylosuccinate Lyase