Congenital Disorders of Glycosylation are a diverse group of metabolic disorders presenting with a spectrum of clinical features ranging from severe neurologic manifestations and multisystemic involvement to hypoglycemia and severe gastrointestinal symptoms with normal development. There are now 16 types of CDG defined by distinct enzyme defects and genes. The number of children and adults diagnosed with CDG in the United States is increasing rapidly with a wider variance in the phenotypes. The goal of the upcoming year will be to continue to identify and evaluate individual patients with CDG, to explore the clinical and biochemical features of untyped individuals and, through clinical research, and continue to add to the compendium of clinical management strategies for physicians caring for these affected adults and children.
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