RESUMO
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.
Assuntos
Defeitos Congênitos da Glicosilação/genética , Epilepsia/genética , Hexosiltransferases/genética , Proteínas de Membrana/genética , Defeitos Congênitos da Glicosilação/complicações , Defeitos Congênitos da Glicosilação/patologia , Epilepsia/complicações , Epilepsia/patologia , Feminino , Humanos , Lactente , Masculino , Mutação/genética , Fenótipo , Transferrina/genética , Sequenciamento do ExomaRESUMO
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.
