Mass spectrometry analysis of metals, other elements and lipids in urine samples of Fabry disease patients

• Published in: International journal of mass spectrometry 2011-10, Vol.307 (1), p.163-173
• Main Authors: Auray-Blais, Christiane, Gagnon, René, Kumtabtim, Usarat, Ntwari, Aimé, Becker, J. Sabine
• Format: Article
• Language: English
• Subjects: Biomarker; Fabry disease; Globotriaosylceramide (Gb 3); Globotriaosylsphingosine (lyso-Gb 3); Mass spectrometry; Metal; Urine
• ISSN: 1387-3806; 1873-2798
• DOI: 10.1016/j.ijms.2011.02.007

[Display omitted] ► ICP-MS method allows metal/other elements quantification in urine of Fabry patients. ► Correlations were established for metals/other elements versus lipids in Fabry disease. ► Urinary strontium values were lower in all male Fabry patients under study. ► Urinary barium levels were lower in all controls. ► Mass spec allows quantitative analysis of urinary isotopes versus Fabry disease biomarkers. Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A leading to accumulation of globotriaosylceramide in tissues and biological fluids of affected patients. Mass spectrometry is a powerful tool to quantify components of interest in biological fluids. Our study had four objectives: (1) to devise an ICP-MS methodology for quantitative determination of metal and other element concentrations in urine specimens of Fabry patients; (2) to analyze urinary Gb 3/creatinine and lyso-Gb 3/creatinine in these patients; (3) to evaluate correlations between urinary lipid concentrations versus metals and other elements in Fabry patients and healthy controls; (4) to evaluate which metals and other elements discriminate groups of patients and controls according to gender and treatment. We found that the excretion of barium was elevated in Fabry females and calcium and strontium levels were lower in Fabry males compared to controls. Preliminary results for treated and untreated Fabry disease patients indicate that ERT seems to have little effect on urine elements analyzed. Statistically significant correlations were established between urinary lyso-Gb 3/creatinine, Gb 3/creatinine and levels of magnesium, copper, mercury, nickel, lead, barium and calcium, whereas no significant correlations were found for the other 15 elements examined. Our results indicate that further studies are warranted in larger cohorts of Fabry disease patients for the investigation of possible roles of metals and other elements.