Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism

Kuhara, Tomiko

doi:10.1016/j.jchromb.2007.03.031

Cited by 52 publications

(26 citation statements)

References 33 publications

(32 reference statements)

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“…Mass spectrometers have already been successfully used in the diagnosis of many metabolic disorders, e.g., in screening for inborn metabolic disorders in infants (Kuhara 2007;Millington et al 1990;Wilcken et al 2003). For example, the more than a dozen amino acids that have been identified in the *3 ll of urine sample within seconds can be used in gastrointestinal nutritional assessment, and in the diagnosis of metabolic disorders (Brand et al 1997;Strauss 2004).…”

Section: Detection Of Xenobiotic and Endogenous Metabolites In Urinementioning

confidence: 99%

Rapid analysis of pharmaceuticals and excreted xenobiotic and endogenous metabolites with atmospheric pressure infrared MALDI mass spectrometry

Shrestha

Vertes

2008

Metabolomics

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Atmospheric pressure (AP) infrared (IR) matrix-assisted laser desorption/ionization (MALDI) mass spectrometry (MS) was demonstrated for the rapid direct analysis of pharmaceuticals, and excreted human metabolites. More than 50 metabolites and excreted xenobiotics were directly identified in urine samples with high throughput. As the water content of the sample was serving as the matrix, AP IR-MALDI showed no background interference in the low mass range. The structure of targeted ions was elucidated from their fragmentation pattern using collision activated dissociation. The detection limit for pseudoephedrine was found to be in the sub-femtomole range and the semi-quantitative nature of the technique was tentatively demonstrated for a metabolite, fructose, by using a homologous internal standard, sucrose. A potential application of AP IR-MALDI for intestinal permeability studies was also explored using polyethylene glycol. Keywords Mass spectrometry Á Pharmaceuticals Á Human metabolomics Á Metabolites Á Matrix-assisted laser desorption ionization Á MALDI Á Atmospheric pressure MALDI Á Infrared MALDI Á Intestinal permeability Abbreviations AP Atmospheric pressure IR Infrared MALDI Matrix-assisted laser desorption/ionization (MALDI) MS Mass spectrometry DESI Desorption electrospray ionization DART Direct analysis in real time DAPCI Desorption atmospheric pressure chemical ionization LAESI Laser ablation electrospray ionization DIOS Desorption ionization on silicon LISMA Laser-induced silicon microcolumn arrays CAD Collision activated dissociation LOD Limit of detection m/z Mass-to-charge ratio 1 Introduction

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Section: Detection Of Xenobiotic and Endogenous Metabolites In Urinementioning

confidence: 99%

Rapid analysis of pharmaceuticals and excreted xenobiotic and endogenous metabolites with atmospheric pressure infrared MALDI mass spectrometry

Shrestha

Vertes

2008

Metabolomics

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“…Thus, metabolites present in blood due to cell damage/death or excretion stand an excellent chance of appearing in the urine as biomarkers. Urinary metabolite biomarkers of interest include those used to assess drug (Wilkins, 1997) and anabolic steroid abuse (Shelby et al, 2011), identify individuals with cancer (Ganti and Weiss, 2011) and other diseases (Kussmann et al, 2006), diagnose inborn errors of metabolism (Kuhara, 2007), determine exposure to carcinogens (Hecht, 2002), pesticides (Egeghy et al, 2011), and endocrine disruptors (Meeker et al, 2009), and monitor levels of oxidative stress (Roberts and Morrow, 2000). …”

Section: Introductionmentioning

confidence: 99%

A statistical analysis of the effects of urease pre-treatment on the measurement of the urinary metabolome by gas chromatography–mass spectrometry

et al. 2014

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Urease pre-treatment of urine has been utilized since the early 1960s to remove high levels of urea from samples prior to further processing and analysis by gas chromatography-mass spectrometry (GC-MS). Aside from the obvious depletion or elimination of urea, the effect, if any, of urease pre-treatment on the urinary metabolome has not been studied in detail. Here, we report the results of three separate but related experiments that were designed to assess possible indirect effects of urease pre-treatment on the urinary metabolome as measured by GC-MS. In total, 235 GC-MS analyses were performed and over 106 identified and 200 unidentified metabolites were quantified across the three experiments. The results showed that data from urease pre-treated samples 1) had the same or lower coefficients of variance among reproducibly detected metabolites, 2) more accurately reflected quantitative differences and the expected ratios among different urine volumes, and 3) increased the number of metabolite identifications. Overall, we observed no negative consequences of urease pre-treatment. In contrast, urease pretreatment enhanced the ability to distinguish between volume-based and biological sample types compared to no treatment. Taken together, these results show that urease pretreatment of urine offers multiple beneficial effects that outweigh any artifacts that may be introduced to the data in urinary metabolomics analyses.

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“…Single quadrupole, ion trap and TOF analyzers are the most commonly used mass analyzers. GC-MS is a first-rate choice for the analysis of volatile compounds such as fatty acids and organic acids [88]. In most cases, it is necessary a prior step for chemical derivatization of non-volatile and thermally stable metabolites.…”

Section: Mass Spectrometrymentioning

confidence: 99%

Proteomics and Metabolomics in Aortic Stenosis: Studying Healthy Valves for a Better Understanding of the Disease

Mouriño-Álvarez¹,

Laborde²,

Barderas³

2013

Calcific Aortic Valve Disease

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Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism

Cited by 52 publications

References 33 publications

Rapid analysis of pharmaceuticals and excreted xenobiotic and endogenous metabolites with atmospheric pressure infrared MALDI mass spectrometry

Rapid analysis of pharmaceuticals and excreted xenobiotic and endogenous metabolites with atmospheric pressure infrared MALDI mass spectrometry

A statistical analysis of the effects of urease pre-treatment on the measurement of the urinary metabolome by gas chromatography–mass spectrometry

Proteomics and Metabolomics in Aortic Stenosis: Studying Healthy Valves for a Better Understanding of the Disease

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