Congenital disorders of glycosylation
نویسندگان
چکیده
منابع مشابه
Congenital disorders of glycosylation.
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 effic...
متن کاملCongenital disorders of glycosylation (CDG)
Congenital Disorders of Glycosylation (CDG) comprise permanently expanding group of inherited diseases caused by defects of multiple glycosylation pathways which disturb structure of many glycoconjugates classes. The first patients were described by Jaak Jaeken in 1980, in 1984 simple test was implemented to identify new cases. In 1995, fifteen years later, enzymatic defect was revealed as phos...
متن کاملCongenital Disorders of Glycosylation: A Review
Congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn erros of metabolism with abnormal glycosylation of proteins and lipids. Nearly 70 inborn errors of metabolism have been described due to congenital defects of glycosylation, present as clinical syndromes, affecting multiple systems, impacting nearly every organ. No specific tests are available yet for screening al...
متن کاملInsights into complexity of congenital disorders of glycosylation
Biochemical and biological properties of glycoconjugates are strongly determined by the specific structure of its glycan parts. Glycosylation, the covalent attachment of sugars to proteins and lipids, is very complex and highly-coordinated process involving > 250 gene products. Deficiency of glycosylation enzymes or transporters results in impaired glycosylation, and consequently pathological m...
متن کاملCongenital disorders of glycosylation: a rare cause of nephrotic syndrome.
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism presenting with multi-system organ involvement due to defective glycosylation of glycoproteins. We report here a case of microcephaly, hypotonia, seizure disorder and severe developmental delay since infancy in whom screening for CDG with transferring isoelectric focussing (TIEF) revealed a type I pattern. Following inv...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2018
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2018.10.45