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A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

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Abstract

The most widely used method for the biochemical screening of oligosaccharidoses is the analysis of the urinary oligosaccharide pattern by thin-layer chromatography on silica gel plates. However, this method is not always sensitive enough, and it is extremely time-consuming and laborious. In this work, the analysis of the urine oligosaccharide pattern was standardized for the first time by using capillary electrophoresis with laser-induced fluorescence (CE-LIF) detection (Beckman P/ACE MDQ) with a 488-nm argon ion laser module. All of the analyses were conducted using the Carbohydrate Labeling and Analysis Kit (Beckman-Coulter), which derivatizes samples with 8-aminopyrene-1,3,6-trisulfonate. Urine samples from 40 control subjects (age range, 1 week to 16 years) and from ten patients diagnosed with eight different lysosomal diseases (six of them included in the Educational Oligosaccharide Kit from ERNDIM EQA schemes) were analyzed. Two oligosaccharide excretion patterns were established in our control population according to age (younger or older than 1 year of age). Abnormal peaks with slower migration times than the tetrasaccharide position were observed for fucosidosis, α-mannosidosis, GM1 gangliosidosis, GM2 gangliosidosis variant 0, Pompe disease, and glycogen storage disease type 3. In conclusion, the first CE-LIF method to screen for oligosaccharidoses and related diseases, which also present oligosacchariduria, has been standardized. In all of the cases, the urine oligosaccharide analysis was strongly informative and showed abnormal patterns that were not present in any of the urine samples from the control subjects. Only urine from patients with aspartylglucosaminuria and Schindler disease displayed normal results.

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Acknowledgments

This work was supported by CIBERER-ISCIII. R. Artuch and M. Casado are funded by Programa de intensificación de la actividad investigadora from the ISCIII, Spain.

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Authors and Affiliations

  1. Clinical Biochemistry Department, Hospital Sant Joan de Déu-CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain

    Mercedes Casado, Laura Altimira, Raquel Montero, Aida Ormazabal & Rafael Artuch

  2. Biochemistry and Molecular Biology Department, Universitat Autònoma de Barcelona, 08193, Sardañola del Vallés, Barcelona, Spain

    Mercedes Casado

  3. Gastroeneterology and Nutrition Department, Hospital Sant Joan de Déu, Passeig de Sant Joan de Déu 2, 08950, Esplugues de Llobregat, Barcelona, Spain

    Esperanza Castejón

  4. Pediatric Neurology Department, Hospital Sant Joan de Déu-CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain

    Andrés Nascimento & Belén Pérez-Dueñas

Authors
  1. Mercedes Casado
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  2. Laura Altimira
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  3. Raquel Montero
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  4. Esperanza Castejón
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  6. Belén Pérez-Dueñas
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  7. Aida Ormazabal
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  8. Rafael Artuch
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Correspondence to Rafael Artuch.

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Casado, M., Altimira, L., Montero, R. et al. A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases. Anal Bioanal Chem 406, 4337–4343 (2014). https://doi.org/10.1007/s00216-014-7832-6

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  • DOI: https://doi.org/10.1007/s00216-014-7832-6

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