Skip Navigation LinksHome > April 2012 - Volume 12 - Issue 2 > Congenital Disorders of Glycosylation
Advances in Neonatal Care:
doi: 10.1097/ANC.0b013e318241cb20
Beyond the Basics

Congenital Disorders of Glycosylation

Woods, Amanda G. RN, MSN, NNP-BC; Woods, Christopher W. RN, MSN, NNP-BC; Snow, Timothy M. RN, MSN, NNP-BC

Section Editor(s): Zukowsky, Ksenia

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Abstract

Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body. A defect in the synthesis of oligosaccharides can result in multisystemic effects. Congenital disorders of glycosylation are classified into type I and type II disorders, each with subgroup classifications. All CDGs are autosomal recessive disorders, with CDG type I being the most common. This article will explore both types of CDG, their clinical presentation, diagnosis, and management.

© 2012 National Association of Neonatal Nurses

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