Abstract
Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.
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Abbreviations
- aa:
-
Amino acid
- CDA:
-
Congenital dyserythropoietic anemia
- CDG:
-
Congential disorder of glycosylation
- HEMPAS:
-
Hereditary erythroblastic multinuclearity with positive acidified serum test
- LLO:
-
Lipid-linked oligosaccharides
- MRI:
-
Magnetic resonance imaging
- OST:
-
Oligosaccharyltransferase
- PDO:
-
Protein-derived oligosaccharides
- RER:
-
Rough endoplasmic reticulum
- Sia:
-
Sialic acid
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Acknowledgements
Supported by grants MA 1229/3-1/-2 from the Deutsche Forschungsgemeinschaft to T.M. and from Innovative Medizinische Forschung (IMF) Münster to T.M. and J.D. S. Bushuven is acknowledged for initial help with the graphic work. This review is dedicated to Prof. Erik Harms for his ongoing support that made our contribution to this rapidly expanding field possible.
If CDG is suspected, a transferrin IEF test should be performed. Many laboratories in Europe offer this service. For analysis in our laboratory, 0.1 ml serum should be sent by regular mail to: Stoffwechsellabor der Kinderklinik, Domagkstr. 3b, 48129 Münster, Germany.
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Further information on congenital disorders of glycosylation (CDG) can be found at: http://cdg.uni-muenster.de/
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Marquardt, T., Denecke, J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162, 359–379 (2003). https://doi.org/10.1007/s00431-002-1136-0
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DOI: https://doi.org/10.1007/s00431-002-1136-0