Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopy |
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Authors: | Hélène Blasco Marie-Ange Garrigue Aymeric De Vos Catherine Antar François Labarthe François Maillot Christian R Andres Lydie Nadal-Desbarats |
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Institution: | 1. Inserm U930, CNRS 2448, 37044, Tours, France 2. Université Fran?ois-Rabelais, 37044, Tours, France 3. Laboratoire de Biochimie et Biologie Moléculaire, CHRU de Tours, 10 Blvd Tonnellé, 37044, Tours, France 4. Université Fran?ois-Rabelais, H?pital Clocheville, 37044, Tours, France 5. Service de Pédiatrie R, CHRU de Tours, 37044, Tours, France 6. Inserm U921, 37044, Tours, France 7. Service de médecine interne, CHRU de Tours, 10 Blvd Tonnellé, 37044, Tours, France 8. Inserm U921, 10 Blvd Tonnellé, 37044, Tours, France
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Abstract: | NMR spectroscopy of urine samples is able to diagnose many inborn errors of metabolism (IEM). However, urinary metabolites
have a poor stability, requiring special care for routine analysis (storage of urine at −20 or −80 °C, fast transport). The
aim of our study was to investigate the reliability of dried urine filter paper for urine storage and transport and to evaluate
the ability of NMR to detect several IEM using this method. Urine samples from five healthy subjects were analyzed by 1H NMR following different storage conditions (−20 vs 4 °C vs dried on filter paper) and at different time points (24 h, 48 h,
96 h, and 7 days). Urine pattern of fresh urine was considered as a reference. We analyzed the conservation of some amino
acids and organic acids using Bland and Altman plot with intraclass correlation coefficient determination. Then, we evaluated
the use of filter paper to detect four different IEM (methylmalonic and isovaleric acidurias, ornithine transcarbamylase deficiency,
and cystinuria). Analysis of urine samples from healthy subjects revealed a high stability of studied molecules (ICC > 0.8)
even after 7 days of storage on filter paper. Moreover, an excellent preservation of metabolites specifically accumulated
in IEM was observed when analysis of dried urine filter paper was compared to fresh urine (coefficient of variation < 15%).
This preliminary study demonstrates that storage of dried urine on filter paper is reliable for 1H NMR spectroscopy analysis. Preservation of urine molecules over time using that method is convenient for routine clinical
practice.
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