American Journal of Pediatrics

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Congenital Disorders of Glycosylation: A Review

Received: Sep. 23, 2015    Accepted: Oct. 06, 2015    Published: Oct. 14, 2015
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Abstract

Congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn erros of metabolism with abnormal glycosylation of proteins and lipids. Nearly 70 inborn errors of metabolism have been described due to congenital defects of glycosylation, present as clinical syndromes, affecting multiple systems, impacting nearly every organ. No specific tests are available yet for screening all types of CDG, analysis of serum Tf by isoelectric focusing (IEF) or high-performance liquid chromatography (HPLC) / (matrix-assisted laser desorption/ionization MALDI) or serum N-glycans (by MS), enzyme activity assays and DNA sequence analysis are the most frequently used methods for CDG screening and diagnosis. We here review the clinical phenotypes in CDG defects.

DOI 10.11648/j.ajp.20150102.11
Published in American Journal of Pediatrics ( Volume 1, Issue 2, September 2015 )
Page(s) 6-28
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Congenital Disorders of Glycosylation, Cdg, Transferrin, O-Glycosylation

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    Ziad Albahri. (2015). Congenital Disorders of Glycosylation: A Review. American Journal of Pediatrics, 1(2), 6-28. https://doi.org/10.11648/j.ajp.20150102.11

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    Ziad Albahri. Congenital Disorders of Glycosylation: A Review. Am. J. Pediatr. 2015, 1(2), 6-28. doi: 10.11648/j.ajp.20150102.11

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    Ziad Albahri. Congenital Disorders of Glycosylation: A Review. Am J Pediatr. 2015;1(2):6-28. doi: 10.11648/j.ajp.20150102.11

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  • @article{10.11648/j.ajp.20150102.11,
      author = {Ziad Albahri},
      title = {Congenital Disorders of Glycosylation: A Review},
      journal = {American Journal of Pediatrics},
      volume = {1},
      number = {2},
      pages = {6-28},
      doi = {10.11648/j.ajp.20150102.11},
      url = {https://doi.org/10.11648/j.ajp.20150102.11},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.ajp.20150102.11},
      abstract = {Congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn erros of metabolism with abnormal glycosylation of proteins and lipids. Nearly 70 inborn errors of metabolism have been described due to congenital defects of glycosylation, present as clinical syndromes, affecting multiple systems, impacting nearly every organ. No specific tests are available yet for screening all types of CDG, analysis of serum Tf by isoelectric focusing (IEF) or high-performance liquid chromatography (HPLC) / (matrix-assisted laser desorption/ionization MALDI) or serum N-glycans (by MS), enzyme activity assays and DNA sequence analysis are the most frequently used methods for CDG screening and diagnosis. We here review the clinical phenotypes in CDG defects.},
     year = {2015}
    }
    

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  • TY  - JOUR
    T1  - Congenital Disorders of Glycosylation: A Review
    AU  - Ziad Albahri
    Y1  - 2015/10/14
    PY  - 2015
    N1  - https://doi.org/10.11648/j.ajp.20150102.11
    DO  - 10.11648/j.ajp.20150102.11
    T2  - American Journal of Pediatrics
    JF  - American Journal of Pediatrics
    JO  - American Journal of Pediatrics
    SP  - 6
    EP  - 28
    PB  - Science Publishing Group
    SN  - 2472-0909
    UR  - https://doi.org/10.11648/j.ajp.20150102.11
    AB  - Congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn erros of metabolism with abnormal glycosylation of proteins and lipids. Nearly 70 inborn errors of metabolism have been described due to congenital defects of glycosylation, present as clinical syndromes, affecting multiple systems, impacting nearly every organ. No specific tests are available yet for screening all types of CDG, analysis of serum Tf by isoelectric focusing (IEF) or high-performance liquid chromatography (HPLC) / (matrix-assisted laser desorption/ionization MALDI) or serum N-glycans (by MS), enzyme activity assays and DNA sequence analysis are the most frequently used methods for CDG screening and diagnosis. We here review the clinical phenotypes in CDG defects.
    VL  - 1
    IS  - 2
    ER  - 

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Author Information
  • Department of Pediatrics - Faculty hospital, Charles University in Hradec Králové, Czech Republic

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