Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation. Issue 6 (8th April 2020) - Bryant, Emily M.
Abstract: Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit ( OSTC ) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.