Congenital disorders of glycosylation.

@article{Jaeken2001CongenitalDO,
  title={Congenital disorders of glycosylation.},
  author={Jaak Jaeken and Gert Matthijs},
  journal={Annual review of genomics and human genetics},
  year={2001},
  volume={2},
  pages={
          129-51
        }
}
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectrofocusing of serum sialotransferrins. An efficient treatment, namely oral D-mannose, is available for only one CDG (CDG-Ib). In many patients with… Expand
Congenital disorders of glycosylation: a rapidly expanding disease family.
TLDR
This review focuses on the clinical, biochemical, and genetic characteristics of CDG and on advances expected in their future study and clinical management. Expand
Congenital disorders of glycosylation
  • J. Jaeken
  • Biology, Medicine
  • Annals of the New York Academy of Sciences
  • 2010
TLDR
Congenital (genetic) disorders of glycosylation (CDG) are a rapidly growing disease family, with some 45 members reported since its first clinical description in 1980, and recently three defects in lipid glyCosylation have been identified. Expand
Congenital Disorders of Glycosylation: A Review
Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited disorders caused by defects in the synthesis and processing of the asparagine(ASN)-linked oligosaccharides ofExpand
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  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 2004
TLDR
It is concluded that CDGs will eventually cover the whole clinical spectrum of paediatric and adult disease manifestations and Serum transferrin isoelectrofocusing remains the cornerstone of the screening for N-glycosylation defects associated with sialic acid deficiency. Expand
Mass spectrometry in the characterization of human genetic N-glycosylation defects.
TLDR
In this manuscript, MS applications in the area of CDG and related disorders are reviewed with a special emphasis on those techniques that have been already applied or might become functional for diagnosis, characterization, and treatment monitoring in some specific conditions. Expand
Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects
  • J. Leroy
  • Biology, Medicine
  • Pediatric Research
  • 2006
TLDR
Isoelectric focusing of plasma transferrin remains a valuable, albeit imperfect, screening tool that delineated some new CDGs due to mutations of both N- and O-glycosylation. Expand
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TLDR
Only in the last couple of years, an ever-growing number of human genetic diseases in the synthesis of glycoproteins have been identified and they are grouped as Congenital Disorders of Glycosylation (CDG), formerly known as Carbohydrate-Deficient Glycoprotein syndromes. Expand
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
TLDR
A non-radioactive procedure employing the fluorescence detection of 2-aminobenzamide-coupled oligosaccharides after HPLC separation is used, which has detected the accumulation of dolichylpyrophosphate-GlcNAc2 in a previously untyped CDG patient and suggested a deficiency of the ALG1 beta1,4 mannosyltransferase. Expand
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.
TLDR
This biochemical approach to charting diseases that involve alterations in glycan processing provides a rapid indicator of the nature, severity, and cell type specificity of the suboptimal glycosylation steps; allows links to genetic mutations; indicates the expression levels of proteins; and gives insight into the pathways affected in the disease process. Expand
Congenital disorders of glycosylation.
TLDR
Both types of CDG are explored, with CDG type I being the most common and their clinical presentation, diagnosis, and management. Expand
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Analysis of lipid-linked oligosaccharides in fibroblasts confirmed the accumulation of dolichyl pyrophosphate-Man9GlcNAc2 in the CDG-Ic patients, and the detrimental effect of these mutations on ALG6 activity was confirmed by complementation of alg6 yeast mutants. Expand
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Retroviral-based expression of the normal Lec35 cDNA in primary fibroblasts of patients restored normal lipid-linked oligosaccharide biosynthesis and it was concluded that mutations in the Lec 35/MPDU1 gene cause CDG. Expand
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The CDGs defined so far can be divided into 2 types, depending on whether they impair LLO assembly and transfer (CDG-I) or whether they affect trimming of the protein-bound oligosaccharide or the addition of sugars to it ( CDG-II). Expand
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A new case of CDG IIa is reported, sharing a number of clinical features with the two previously reported cases and emphasising the clinical differences from CDG I. Expand
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The delineation of a novel type of CDG identified in 2 children presenting with severe developmental delay, seizures, and dysmorphic features was named CDG-Ie, and mannose supplementation failed to improve the glycosylation status of DPM1-deficient fibroblast cells, thus precluding a possible therapeutic application of mannosed in the patients. Expand
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TLDR
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TLDR
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TLDR
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