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Australian Journal of Chemistry Australian Journal of Chemistry Society
An international journal for chemical science
RESEARCH FRONT

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.


References

[1]  A. C. Olivieri, J. A. Arancibia, A. M. de la Pena, I. Duran-Meras, A. E. Mansilla, Anal. Chem. 2004, 76, 5657.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXntF2itr4%3D&md5=f2d832b3b4676ebc03b9ee605fcbd21dCAS |

[2]  M. M. Sena, M. G. Trevisan, R. J. Poppi, Talanta 2006, 68, 1707.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28XptVSitg%3D%3D&md5=e80da7ed6fe22c0f8978c6f0452bcbfdCAS |

[3]  J. Sadecka, J. Tothova, Czech. J. Food Sci. 2007, 25, 159.
         | 1:CAS:528:DC%2BD2sXhtVehsLrN&md5=a7ec0b98d953820ff9a2fb8edf3f33c4CAS |

[4]  W. Chen, P. Westerhoff, J. A. Leenheer, K. Booksh, Environ. Sci. Technol. 2003, 37, 5701.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3sXovFeisrc%3D&md5=5b5a6b477bc2ee6a9e0a8824d60e1bd1CAS |

[5]  S. Lim, J. O. Escobedo, M. Lowry, R. Strongin, Chem. Commun. 2011, 47, 8295.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3MXoslWqtrs%3D&md5=49968d0dc6abb9a9097234a902d79ee3CAS |

[6]  S. Jiang, J. O. Escobedo, K. K. Kim, O. Alpturk, G. K. Samoei, S. O. Fakayode, I. M. Warner, O. Rusin, R. M. Strongin, J. Am. Chem. Soc. 2006, 128, 12221.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28XosFartr4%3D&md5=d6e972f1444c843235077025a56d6b61CAS |

[7]  S. Marie, B. Heron, P. Bitoun, T. Timmerman, G. Van den Berghe, M. F. Vincent, Am. J. Hum. Genet. 2004, 74, 1276.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXks1Cqs74%3D&md5=497095db1267f89299a5114077126770CAS |

[8]  W. L. Nyhan, Mol. Genet. Metab. 2005, 86, 25.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2MXhtVOksLfP&md5=4b43abfa0eecf971accf0fa6f3af6a5cCAS |

[9]  E. K. Spiegel, R. F. Colman, D. Patterson, Mol. Genet. Metab. 2006, 89, 19.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28XotlCjs7c%3D&md5=e59ad7853fa3ab894e4a8b98576ffbc7CAS |

[10]  A. Jurecka, J. Inherit. Metab. Dis. 2009, 32, 247.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXjvFOgs70%3D&md5=c139a36b5a7d4fea0f27547431531a60CAS |

[11]  C. M. Andersen, R. Bro, J. Chemometr. 2003, 17, 200.
         | Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3sXjslans78%3D&md5=c44cfba20690656e3c14eeff356f01b5CAS |