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Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine

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Abstract

A rhodamine based boronic acid linearly responds to increasing 5-aminoimidazole-4-carboxamide riboside (AICAr) concentrations in human urine. This method is thus an advance in detecting adenylosuccinate lyase (ADSL) deficiency as AICAr is a model riboside for the ADSL substrates succinyladenosine (S-Ado) and succinylaminoimidazolecarboxamide riboside (SAICAr). ADSL deficiency is a rare but devastating disease of de novo purine synthesis in infants. Its diagnosis is also significant as it is one of the autism spectrum disorders

Year: 2016
OAI identifier: oai:CiteSeerX.psu:10.1.1.1024.9298
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