Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine.
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.
Department of Chemistry, Portland State University, Portland, Oregon 97207, USA.
Soojin
S
Lim
Mark
M
Lowry
Robert M
RM
Strongin