congenital disorder of glycosylation

Introduction

The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, & maintenance of cell functions.

Pathology

• metabolic deficiency in glycoprotein biosynthesis
• under-glycosylated serum glycoproteins

Genetics

• mutations in genes encoding proteins involved in stepwise assembly of dolichol-oligosaccharide used for protein N-glycosylation

Clinical manifestations

• severe mental retardation
• psychomotor retardation
• dysmorphic features
• hypotonia
• coagulation disorders
• immunodeficiency

More general terms

• carbohydrate inborn error of metabolism

More specific terms

• 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)

Additional terms

• protein glycosylation