Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects
| Autor: | Jules G. Leroy |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Glycosylation Genetic counseling Golgi Apparatus Oligosaccharides Mannose Biology symbols.namesake chemistry.chemical_compound N-linked glycosylation Humans Child chemistry.chemical_classification Endoplasmic reticulum Infant Newborn Infant Golgi apparatus chemistry Transferrin Child Preschool Pediatrics Perinatology and Child Health Immunology symbols lipids (amino acids peptides and proteins) Glycoprotein Carbohydrate Metabolism Inborn Errors |
| Zdroj: | Pediatric Research. 60:643-656 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/01.pdr.0000246802.57692.ea |
| Popis: | The congenital disorders of N-glycosylation (CDG), a steadily increasing group of multi-systemic disorders, have severe clinical implications in infancy and early childhood. The various inborn errors responsible adversely affect N-glycosylation of lysosomal proteins because of either failing assembly of lipid-linked (LL) oligosaccharides (OS) in the endoplasmic reticulum, CDG Type I, or faulty processing of the asparagines (N)-linked OS in the ER and in the Golgi, CDG Type II. The overlap of phenotypes precludes specific clinical delineation. Isoelectric focusing (IEF) of plasma transferrin remains a valuable, albeit imperfect, screening tool. IEF of plasma ApoC-III protein, introduced O-glycosylation defects that delineated some new CDGs due to mutations of both N- and O-glycosylation. Only CDG-Ib is amenable to treatment with free mannose supplementation. Hence, early specific diagnosis of any one entity is crucial for genetic counseling and elective preventive measures. |
| Databáze: | OpenAIRE |
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