Abstract
Congenital disorders of glycosylation (CDG) are a variable, rapidly expanding group of genetic metabolic disorders. Glycosylation is fundamental to the processing of proteins and lipids, and as such, disorders in these pathways can cause multisystemic effects. Symptoms can be evident as early as the prenatal period and should be suspected in an infant with multisystemic disease. Biochemical screening and confirmatory molecular genetic tests are available; however, their sensitivity is imperfect and some patients are now being diagnosed by whole exome sequencing. Early diagnosis is important, because treatment options are available for some subtypes.
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