congenital disorder of glycosylation

The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, & maintenance of cell functions. Pathology: 1) metabolic deficiency in glycoprotein biosynthesis 2) under-glycosylated serum glycoproteins Genetics: - mutations in genes encoding proteins involved in stepwise assembly of dolichol-oligosaccharide used for protein N-glycosylation Clinical manifestations: 1) severe mental retardation 2) psychomotor retardation 3) dysmorphic features 4) hypotonia 5) coagulation disorders 6) immunodeficiency

Specific

congenital disorder of glycosylation 1D (CDG-1D); carbohydrate-deficient glycoprotein syndrome type 4 (CDGS4) congenital disorder of glycosylation type 1A; carbohydrate-deficient glycoprotein syndrome type 1A; Jaeken syndrome congenital disorder of glycosylation type 1B; carbohydrate-deficient glycoprotein syndrome type 1B congenital disorder of glycosylation type 1C; carbohydrate-deficient glycoprotein syndrome type V congenital disorder of glycosylation type 1E congenital disorder of glycosylation type 1F congenital disorder of glycosylation type 1G congenital disorder of glycosylation type 1H congenital disorder of glycosylation type 1i congenital disorder of glycosylation type 1J congenital disorder of glycosylation type 1K congenital disorder of glycosylation type 1L congenital disorder of glycosylation type 2A; carbohydrate-deficient glycoprotein syndrome type 2 congenital disorder of glycosylation type 2C (CDG2C); congenital disorder of glycosylation type 2D congenital disorder of glycosylation type 2E (CDG2E) congenital disorder of glycosylation type 2F (CDG2F) congenital disorder of glycosylation type 2G (CDG2G) congenital disorder of glycosylation type 2H (CDG2H)