Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
(1999) In Glycoconjugate Journal 16(11). p.669-671- Abstract
During the last few years, progress in identifying the molecular defects of the carbohydrate-deficient glycoprotein syndromes has been very rapid. Up to this date, six different gene defects have been elucidated. The plethora of defects that will eventually be identified makes it indispensable to use a simple and straightforward nomenclature for this group of diseases. A group of specialists in this field met for a round-table discussion at the 'First International Workshop on CDGS' in Leuven, Belgium, November 12-13, 1999, and came up with the following recommendations. 1. CDG stands for 'Congenital Disorders of Glycosylation'. 2. The disorders are divided into groups, based on the biochemical pathway affected: group I refers to... (More)
During the last few years, progress in identifying the molecular defects of the carbohydrate-deficient glycoprotein syndromes has been very rapid. Up to this date, six different gene defects have been elucidated. The plethora of defects that will eventually be identified makes it indispensable to use a simple and straightforward nomenclature for this group of diseases. A group of specialists in this field met for a round-table discussion at the 'First International Workshop on CDGS' in Leuven, Belgium, November 12-13, 1999, and came up with the following recommendations. 1. CDG stands for 'Congenital Disorders of Glycosylation'. 2. The disorders are divided into groups, based on the biochemical pathway affected: group I refers to defects in the initial steps of N-linked protein glycosylation. These deficiencies affect the assembly of dolichylpyrophosphate linked oligosaccharide and/or its transfer to asparagine residues on the nascent polypeptides; group II refers to defects in the processing of protein-bound glycans or the addition or other glycans to the protein. This grouping no longer refers directly to the isoelectric focusing pattern of serum transferrins or other serum glycoproteins. 3. CDG types are assigned to one of the groups and will be numbered consecutively as they are identified: Ia, Ib,..., IIa, IIb,..., etc. The currently distinguished types are: CDG-Ia (PMM2), CDG-Ib (MPI), CDG-Ic (ALG6), CDG-Id (ALG3), CDG-Ie (DPM1), CDG-IIa (MGAT2). 4. No new designations will be made unless the genetic defect is established. Untyped cases are considered 'x' cases (CDG-x) until the genetic defect is known.
(Less)
- author
- publishing date
- 1999-11
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- ALG3, ALG6, DPM1, Metabolic disorder, MGAT2, MPI, PMM2
- in
- Glycoconjugate Journal
- volume
- 16
- issue
- 11
- pages
- 669 - 671
- publisher
- Springer
- external identifiers
-
- scopus:0033333620
- pmid:11003549
- ISSN
- 0282-0080
- DOI
- 10.1023/A:1017249723165
- language
- English
- LU publication?
- no
- id
- dfd10082-9012-4eb8-bab7-740eb63bd8ec
- date added to LUP
- 2020-03-03 19:16:51
- date last changed
- 2024-04-17 06:55:03
@article{dfd10082-9012-4eb8-bab7-740eb63bd8ec,
abstract = {{<p>During the last few years, progress in identifying the molecular defects of the carbohydrate-deficient glycoprotein syndromes has been very rapid. Up to this date, six different gene defects have been elucidated. The plethora of defects that will eventually be identified makes it indispensable to use a simple and straightforward nomenclature for this group of diseases. A group of specialists in this field met for a round-table discussion at the 'First International Workshop on CDGS' in Leuven, Belgium, November 12-13, 1999, and came up with the following recommendations. 1. CDG stands for 'Congenital Disorders of Glycosylation'. 2. The disorders are divided into groups, based on the biochemical pathway affected: group I refers to defects in the initial steps of N-linked protein glycosylation. These deficiencies affect the assembly of dolichylpyrophosphate linked oligosaccharide and/or its transfer to asparagine residues on the nascent polypeptides; group II refers to defects in the processing of protein-bound glycans or the addition or other glycans to the protein. This grouping no longer refers directly to the isoelectric focusing pattern of serum transferrins or other serum glycoproteins. 3. CDG types are assigned to one of the groups and will be numbered consecutively as they are identified: Ia, Ib,..., IIa, IIb,..., etc. The currently distinguished types are: CDG-Ia (PMM2), CDG-Ib (MPI), CDG-Ic (ALG6), CDG-Id (ALG3), CDG-Ie (DPM1), CDG-IIa (MGAT2). 4. No new designations will be made unless the genetic defect is established. Untyped cases are considered 'x' cases (CDG-x) until the genetic defect is known.</p>}},
author = {{Aebi, M. and Helenius, A. and Schenk, B. and Barone, R. and Fiumara, A. and Berger, E. G. and Hennet, T. and Imbach, T. and Stutz, A. and Bjursell, C. and Uller, A. and Wahlstrom, J. G. and Briones, P. and Cardo, E. and Clayton, P. and Winchester, B. and Cormier-Dalre, V. and De Lonlay, P. and Cuer, M. and Dupre, T. and Seta, N. and De Koning, T. and Dorland, L. and De Loos, F. and Kupers, L. and Fabritz, L. and Hasilik, M. and Marquardt, T. and Niehues, R. and Freeze, H. and Grunewald, S. and Heykants, L. and Jaeken, J. and Matthijs, G. and Schollen, E. and Keir, G. and Kjaergaard, S. and Schwartz, M. and Skovby, F. and Klein, A. and Roussel, P. and Korner, C. and Lubke, T. and Thiel, C. and Von Figura, K. and Koscielak, J. and Krasnewich, D. and Lehle, L. and Peters, V. and Raab, M.}},
issn = {{0282-0080}},
keywords = {{ALG3; ALG6; DPM1; Metabolic disorder; MGAT2; MPI; PMM2}},
language = {{eng}},
number = {{11}},
pages = {{669--671}},
publisher = {{Springer}},
series = {{Glycoconjugate Journal}},
title = {{Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG}},
url = {{http://dx.doi.org/10.1023/A:1017249723165}},
doi = {{10.1023/A:1017249723165}},
volume = {{16}},
year = {{1999}},
}