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Contents Vol 64(11)

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

Soojin Lim A , Mark Lowry A and Robert M. Strongin A B
+ Author Affiliations
- Author Affiliations

A Department of Chemistry, Portland State University, Portland, Oregon 97207, USA.

B Corresponding author. Email: strongin@pdx.edu

Australian Journal of Chemistry 64(11) 1470-1473 https://doi.org/10.1071/CH11328
Submitted: 6 August 2011  Accepted: 6 September 2011   Published: 14 October 2011

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.


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