Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry

Biomedical Chromatography

Volumn 19, Issue 3, 2005, Pages 223-230

  Rashed, Mohamed S ^a   Saadallah, Amal A A ^a   Rahbeeni, Zuhair ^a   Eyaid, Wafaa ^b   Seidahmed, Mohamed Z ^c   Al Shahwan, Saad ^d   Salih, Mustafa A M ^e   Osman, Mohammad E ^e   Al Amoudi, Mohamed ^a   Al Ahaidib, Lujane ^a   Jacob, Minnie ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD NATIONAL GUARD HOSPITAL   (Saudi Arabia)

^c SECURITY FORCES HOSPITAL   (Saudi Arabia)

^d The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

Isolated sulphite oxidase deficiency; Molybdenum cofactor deficiency; Paediatric urine; Stable isotope dilution LC MS MS

Indexed keywords

BIOCHEMISTRY; BODY FLUIDS; ISOTOPES; MASS SPECTROMETRY; MOLYBDENUM; NEGATIVE IONS; PEDIATRICS; SIGNAL TO NOISE RATIO;

ELECTROSPRAY TANDEM MASS SPECTROMETRY; ISOLATED SULPHITE OXIDASE DEFICIENCY; LC-MS-MS; LIQUID CHROMATOGRAPHY ELECTROSPRAY; MOLYBDENUM COFACTOR DEFICIENCY; MOLYBDENUM-COFACTOR; PEDIATRIC URINE; STABLE ISOTOPE DILUTION; STABLE ISOTOPE DILUTION LC-MS/MS; SULFITE OXIDASE DEFICIENCY;

DIAGNOSIS;

CREATININE; CYSTEINE DERIVATIVE; HYPOXANTHINE; MOLYBDENUM; S SULFOCYSTEINE; SULFITE OXIDASE; UNCLASSIFIED DRUG; XANTHINE;

ANALYTIC METHOD; ARTICLE; CHEMICAL ANALYSIS; CHEMICAL STRUCTURE; CHILD; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; HUMAN; LIQUID CHROMATOGRAPHY; SAUDI ARABIA; SEPARATION TECHNIQUE; SIGNAL NOISE RATIO; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; URINALYSIS; URINARY EXCRETION; VALIDATION PROCESS;

EID: 20244368667     PISSN: 02693879     EISSN: None     Source Type: Journal    
DOI: 10.1002/bmc.439     Document Type: Article

References (17)

1. Carragher FM, Kirk JM, Steer C, Allen J and Dorche C. False negative thiosulphate screening test in a case of molybdenum cofactor deficiency. Journal of Inherited Metabolic Disease 1999; 22: 842.
2. Daskalakis I, Lucock MD, Anderson A, Wild J, Schorah CJ and Levene MI. Determination of plasma total homocysteine and cysteine using HPLC fluorescence detection and an ammonium 7-fluoro-2, 1, 3-benzoxadiazole-4-sulphonate (SBD-F) derivatization protocol optimized for antioxidant concentration, derivatization reagent concentration, temperature and matrix pH. Biomedical Chromatography 1996; 10 205.
3. Duran M, Beemer FA, van der Heiden C, Korteland J, de Bree PK, Brink M, Wadman SK and Lombeck I. Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? Journal of Inherited Metabolic Disease 1978; 1: 175.
4. Garrett RM, Bellissimo DB and Rajagopalan KV. Molecular cloning of human liver sulfite oxidase. Biochimica Biophysica Acta 1995; 1262: 147.
5. Inglis AS and Liu T-Y. The stability of cysteine and cystine during acid hydrolysis of proteins and peptides. Journal of Biological Chemistry 1970; 245: 112.
6. Ito T, van Kuilenburg ABP, Bootsma AH, Haasnoot AJ, van Cruchten A, Wada Y and van Gennip AH. Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Clinical Chemistry 2000; 46 445.
7. Johnson JL and Rajagopalan KV. An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulfite oxidase deficiency. Journal of Inherited Metabolic Disease 1995; 18: 40.
8. Johnson JL and Wadman SK. Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: The Metabolic and Molecular Basis of Inherited Disease, 7th edn, Scriver CR, Beaudet AL, Sly WS and Valle D (eds). McGraw-Hill: New York, 1995; 2271.
9. Koch H. Dipsticks and convulsions. Lancet 1998; 352 1824.
10. Magera MJ, Lacey JM, Casetta B and Rinaldo P. Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry. Clinical Chemistry 1999; 45: 1517.
11. Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Al-Amoudi M and Ozand PT. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clinical Chemistry 1997; 43: 1129.
12. Simmonds HA, Reiter S and Nishino T. Hereditary xanthinuria. In: The Metabolic and Molecular Basis of Inherited Disease, 7th edn, Scriver CR, Beaudet AL, Sly WS and Valle D (eds). McGraw-Hill: New York, 1995; 1781.
13. Simmonds HA, Hoffmann GF, Perignon JL, Micheli V and van Gennip AH. Diagnosis of Molybdenum cofactor deficiency. Lancet 1999; 353: 675.
14. Slot HMJ, Overweg-Plandsoen WCG, Bakker HD, Abeling NGGM, Tamminga P, Barth PG and van Gennip AH. Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions. Neuropediatrics 1993; 24: 139.
15. Sumi S, Kidouchi K, Ohba S and Wada Y. Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. Journal of Chromatography and Biomedical Applications 1995; 672: 233.
16. Valik D and Jones JD. Hereditary disorders of purine and pyrimidine metabolism: identification of their biochemical phenotypes in the clinical laboratory. Mayo Clinic Proceedings 1997; 72: 719.
17. Van Gennip AH, Abeling NGGM, Stroomer AEM, Overmars H, and Bakker HD. The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile. Journal of Inherited Metabolic Disease 1997; 17: 142.