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

  • Aust J Chem. 2011 Oct 14;64(11):1470-1473. doi: 10.1071/CH11328.
Soojin Lim  1 ,  Mark Lowry ,  Robert M Strongin
Affiliations
  • 1. Department of Chemistry, Portland State University, Portland, Oregon 97207, USA.
PMID: 22719107 DOI: 10.1071/CH11328
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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