Congenital disorders of glycosylation (CDG)
What are congenital disorders of glycosylation (CDG) and what neurologic manifestations can they cause?
Congenital disorders of glycosylation (CDG) are a group of inherited conditions caused by abnormalities in protein glycosylation.
A broad spectrum of clinical manifestations and abnormalities in multiple organ systems are associated with CDGs, including failure to thrive, chronic diarrhea, liver disease, abnormal subcutaneous fat distribution, retinitis pigmentosa, cutis laxa, developmental delay, hypotonia, and ataxia.
The clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults.
Most commonly, the disorders begin in infancy.
However, most types have been described in only a few individuals, and our understanding of the phenotypic spectrum of these disorders is limited.