Congenital disorders of glycosylation

Erik A Eklund MD PhD (Dr. Eklund of Lund University received an honorarium from BioMarin as a guest speaker.)
Tyler Reimschisel MD, editor. (Dr. Reimschisel of Vanderbilt University has received contracted research grants from Shire and Vtesse.)
Originally released June 1, 2013; last reviewed October 20, 2016; expires October 20, 2019

Overview

The congenital disorders of glycosylation constitute a large group of inherited disorders with multiorgan expression of symptoms. In most patients there are signs of nervous system involvement where typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), developmental delay, strokes and stroke-like episodes, epileptic seizures, myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), and demyelinating neuropathy. Patient presentations can demonstrate significant differences between and within the different subgroups. In this article, the author explains the basic genetic and biochemical background to these syndromes and describes the most common subtypes in terms of initial clinical signs, diagnostic work-up, prognosis and clinical progression, and, in a few instances, treatment.

Key points

 

• The congenital disorders of glycosylation (CDG) syndromes constitute a group of severe syndromes with a broad phenotypic expression within and between subtypes.

 

• A majority can be detected using a transferrin glycosylation test.

 

• There is no specific treatment in most subtypes.

 

CDG should be excluded in all patients with unclear psychomotor retardation in combination with symptoms of dysfunction in other organ systems.

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