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

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• 作者：Mercedes Casado (1) (2)
  Laura Altimira (1)
  Raquel Montero (1)
  Esperanza Castejón (3)
  Andrés Nascimento (4)
  Belén Pérez-Due?as (4)
  Aida Ormazabal (1)
  Rafael Artuch (1)
  
• 关键词：Capillary electrophoresis ; Laser ; induced fluorescence detection ; Oligosaccharidoses ; Pediatric patients
• 刊名：Analytical and Bioanalytical Chemistry
• 出版年：2014
• 出版时间：July 2014
• 年：2014
• 卷：406
• 期：18
• 页码：4337-4343
• 全文大小：406 KB
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• 作者单位：Mercedes Casado (1) (2)
  Laura Altimira (1)
  Raquel Montero (1)
  Esperanza Castejón (3)
  Andrés Nascimento (4)
  Belén Pérez-Due?as (4)
  Aida Ormazabal (1)
  Rafael Artuch (1)
  
  1. Clinical Biochemistry Department, Hospital Sant Joan de Déu-CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain
  2. Biochemistry and Molecular Biology Department, Universitat Autònoma de Barcelona, 08193, Sarda?ola del Vallés, Barcelona, Spain
  3. Gastroeneterology and Nutrition Department, Hospital Sant Joan de Déu, Passeig de Sant Joan de Déu 2, 08950, Esplugues de Llobregat, Barcelona, Spain
  4. Pediatric Neurology Department, Hospital Sant Joan de Déu-CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain
  
• ISSN：1618-2650

文摘

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. Figure ?/em>