Disorders of Glycosylation
(2025) p.3-572- Abstract
The congenital disorders of glycosylation (CDG) comprise a large and growing family of genetic disorders, characterized by hypoglycosylation of multiple glycoconjugates. Normal glycosylation requires a large number of enzymes and associated proteins acting in sequence to modify proteins and lipids by the addition of oligosaccharide side chains. This process is essential for normal development and function, particularly early in life.There are three main subgroups within the congenital disorders of glycosylation-disorders of N-linked glycosylation, disorders of O-linked glycosylation, and GPI anchor disorders. The N-linked glycosylation disorders comprise the largest family and are characterized by a variety of multi-system... (More)
The congenital disorders of glycosylation (CDG) comprise a large and growing family of genetic disorders, characterized by hypoglycosylation of multiple glycoconjugates. Normal glycosylation requires a large number of enzymes and associated proteins acting in sequence to modify proteins and lipids by the addition of oligosaccharide side chains. This process is essential for normal development and function, particularly early in life.There are three main subgroups within the congenital disorders of glycosylation-disorders of N-linked glycosylation, disorders of O-linked glycosylation, and GPI anchor disorders. The N-linked glycosylation disorders comprise the largest family and are characterized by a variety of multi-system manifestations, including developmental delay, seizures, movement disorders, central nervous system malformations, as well as coagulopathies, dermatologic, immunologic, hepatic, cardiac, and GI dysfunction. Several of these disorders are amenable to specific dietary therapy or supplementation.The O-linked disorders include many muscular dystrophies, specifically the congenital muscular dystrophies involving muscle, eye, and brain, as well as some disorders with primarily connective tissue and bony manifestations.The GPI anchor disorders most frequently present with developmental delays and seizures; in some cases, specific findings, such as an elevated alkaline phosphatase, may point to the diagnosis.Biochemical screening tests are available for some of the congenital disorders of glycosylation, but currently gene sequencing is the most efficient way to make a diagnosis in most cases, supported, where necessary, by additional biochemical analysis.There were no approved therapies for these disorders, but acetazolamide has shown promise in managing ataxia in PMM2-CDG, the most frequent form of CDG.
(Less)
- author
- Patterson, Marc C. ; Ng, Bobby G. and Eklund, Erik Axel LU
- organization
- publishing date
- 2025-05-30
- type
- Chapter in Book/Report/Conference proceeding
- publication status
- published
- subject
- keywords
- ataxia, CDG, cerebellar atrophy, Congenital disorders of glycosylation, developmental delay, GPI anchor, PMM 2
- host publication
- Swaiman's Pediatric Neurology : Principles and Practice - Principles and Practice
- pages
- 3 - 572
- publisher
- Elsevier
- external identifiers
-
- scopus:105012010628
- ISBN
- 9780443109447
- 9780443111068
- DOI
- 10.1016/B978-0-443-10944-7.00062-7
- language
- English
- LU publication?
- yes
- additional info
- Publisher Copyright: © 2024 Elsevier Inc. All rights reserved.
- id
- 65080557-23c5-44b7-9215-562edea51f17
- date added to LUP
- 2026-01-21 14:38:22
- date last changed
- 2026-01-23 12:02:16
@inbook{65080557-23c5-44b7-9215-562edea51f17,
abstract = {{<p>The congenital disorders of glycosylation (CDG) comprise a large and growing family of genetic disorders, characterized by hypoglycosylation of multiple glycoconjugates. Normal glycosylation requires a large number of enzymes and associated proteins acting in sequence to modify proteins and lipids by the addition of oligosaccharide side chains. This process is essential for normal development and function, particularly early in life.There are three main subgroups within the congenital disorders of glycosylation-disorders of N-linked glycosylation, disorders of O-linked glycosylation, and GPI anchor disorders. The N-linked glycosylation disorders comprise the largest family and are characterized by a variety of multi-system manifestations, including developmental delay, seizures, movement disorders, central nervous system malformations, as well as coagulopathies, dermatologic, immunologic, hepatic, cardiac, and GI dysfunction. Several of these disorders are amenable to specific dietary therapy or supplementation.The O-linked disorders include many muscular dystrophies, specifically the congenital muscular dystrophies involving muscle, eye, and brain, as well as some disorders with primarily connective tissue and bony manifestations.The GPI anchor disorders most frequently present with developmental delays and seizures; in some cases, specific findings, such as an elevated alkaline phosphatase, may point to the diagnosis.Biochemical screening tests are available for some of the congenital disorders of glycosylation, but currently gene sequencing is the most efficient way to make a diagnosis in most cases, supported, where necessary, by additional biochemical analysis.There were no approved therapies for these disorders, but acetazolamide has shown promise in managing ataxia in PMM2-CDG, the most frequent form of CDG.</p>}},
author = {{Patterson, Marc C. and Ng, Bobby G. and Eklund, Erik Axel}},
booktitle = {{Swaiman's Pediatric Neurology : Principles and Practice}},
isbn = {{9780443109447}},
keywords = {{ataxia; CDG; cerebellar atrophy; Congenital disorders of glycosylation; developmental delay; GPI anchor; PMM 2}},
language = {{eng}},
month = {{05}},
pages = {{3--572}},
publisher = {{Elsevier}},
title = {{Disorders of Glycosylation}},
url = {{http://dx.doi.org/10.1016/B978-0-443-10944-7.00062-7}},
doi = {{10.1016/B978-0-443-10944-7.00062-7}},
year = {{2025}},
}