Description
Congenital Disorders of Glycosylation (CDG) are new and rapidly expanding neurometabolic disorders with multisystem involvements, broad phenotypic manifestations, and variable severity. The majority results from a defect of one of the steps involved with protein or lipid N-glycosylation pathway. Almost all are inherited in autosomal recessive patterns with a few exceptions such as the
Subject
*Mutation; *X Chromosome Inactivation; ALG13; CDG Is; Child; Congenital disorder of glycosylation; Congenital Disorders of Glycosylation/diagnosis/*genetics; Exome; Female; Glycosylation; Heterozygote; Humans; Infant; Infantile/diagnosis/*genetics; Mental Retardation; Missense; N-Acetylglucosaminyltransferases/*genetics; Post-Translational; Preschool; Protein Processing; Spasms; Syndrome; Transferrin/metabolism; X-inactivation; X-Linked/diagnosis/*genetics