TY - JOUR AU - Chang, Irene J. AU - He, Miao AU - Lam, Christina T. PY - 2018 TI - Congenital disorders of glycosylation JF - Annals of Translational Medicine; Vol 6, No 24 (December 29, 2018): Annals of Translational Medicine (Focus on “Inborn Errors of Metabolism”) Y2 - 2018 KW - N2 - Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms, and variable coagulation and endocrine abnormalities. Carbohydrate deficient transferrin (CDT) and protein-linked glycan analysis with mass spectrometry can diagnose some subtypes of congenital disorders of glycosylation (CDG), while many currently rely on massively parallel genomic sequencing for diagnosis. Early detection is important, as a few of these disorders are treatable. Molecular and biochemical techniques continue UR - https://atm.amegroups.org/article/view/22302