Congenital Disorders of Glycosylation: A <i>Review</i>

Ziad Albahri

doi:doi:10.11648/j.ajp.20150102.11

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Congenital Disorders of Glycosylation: A Review

Ziad Albahri

Published in American Journal of Pediatrics (Volume 1, Issue 2)

Received: 23 September 2015 Accepted: 6 October 2015 Published: 14 October 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.

Published in	American Journal of Pediatrics (Volume 1, Issue 2)
DOI	10.11648/j.ajp.20150102.11
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), 2015. 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://article.sciencepublishinggroup.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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Ziad Albahri

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

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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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AMA Style

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://article.sciencepublishinggroup.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}
}

Copy | Download

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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