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.
Subject(s)
Congenital Disorders of Glycosylation/genetics , Epilepsy/genetics , Hexosyltransferases/genetics , Membrane Proteins/genetics , Congenital Disorders of Glycosylation/complications , Congenital Disorders of Glycosylation/pathology , Epilepsy/complications , Epilepsy/pathology , Female , Humans , Infant , Male , Mutation/genetics , Phenotype , Transferrin/genetics , Exome SequencingABSTRACT
Researchers at the International Collaborative Infantile Spasms Study (ICISS) conducted a study to assess the developmental and epilepsy outcomes in infants treated with combination (hormonal and vigabatrin) therapy for the diagnosis of infantile spasms.
