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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry
Biomedical Chromatography, Volume 19, No. 3, Year 2005
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Description
Molybdenum cofactor and isolated sulphite oxidase deficiencies are two related rare autosomal recessive diseases characterized severe neurological abnormalities, dislocated lens and mental retardation. Determination of three biochemical markers S-sulphocysteine (SSC), xanthine (XAN) and hypoxanthine (HXAN) in urine is essential for a definitive diagnosis and identification of the exact defect. We developed a rapid liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the analysis of SSC, XAN and HXAN in urine. The analysis was carried out in the negative-ion selected-reaction monitoring mode. The turnaround time for the assay was 7 min. Linear calibration curves for the three biomarkers were obtained in the range of 12-480 μmol/L. The intra- and inter-day assay variations were <2.5%. Mean recoveries of SSC, XAN and HXAN added to urine at two significantly different concentrations were in the range 94.3-107.3%. At a normal SSC urine excretion value of 3.2 μmol/mmol creatinine, the signal-to-noise ratio was 337:1. This stable isotope dilution LC-MS/MS method is specific, rapid and simple, and provides definitive diagnosis for molybdenum cofactor and isolated sulphite oxidase deficiencies in very small volumes of urine. We have identified seven new cases of isolated sulphite oxidase deficiency from four Saudi families and one Sudanese family. Copyright © 2004 John Wiley & Sons, Ltd.
Authors & Co-Authors
Rashed, Mohamed S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saadallah, Amal A.A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Rahbeeni, Zuhair Abdalla
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Eyaid, Wafaa M.
Saudi Arabia, Riyadh
King Fahad National Guard Hospital
Seidahmed, Mohammed Zain
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Al Shahwan, Saad
Saudi Arabia, Riyadh
Riyadh Military Hospital
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
King Khalid University Hospital
Osman, Mohammad E.
Saudi Arabia, Riyadh
King Khalid University Hospital
Al-Amoudi, Mohamed S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Ahaidib, L. Y.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Jacob, Minnie
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 28
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1002/bmc.439
ISSN:
02693879