Heterogenity in Patients with Congenital Glycosylatioin

Human Genome Research

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Abstract

We continue to explore the heterogenous clinical, molecular and biochemical features of Congenital Disorders of Glycosylation (CDG). We have published 2 papers recently; one on a novel mutation of PMM2 in CDG1A in the first identified African American patients. The other defines a new diagnostic technique to more accurately identify patients with CDG type 1A, the most common type of this group of disorders. This technique uses anion exchange chromatography to specifically and sensitively identify affected individuals. The number of children and adults diagnosed with CDG in the United States is increasing rapidly with a wider variance in the phenotypes. It is becoming clear that management strategies for the unique clinical problems of these individuals need to be developed. A group of physicians involved in the care of patients with CDG met this year to come to consensus about medical management strategies in the care of these rare patients. This consensus document is in its final draft for publication to be used by the medical community. 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.