Congenital disorders of glycosylation: the rapidly growing tip of the iceberg

In addition to many other organs, the brain is affected in 10 of the 11 known congenital disorders of Winked glycosylation, mostly to a severe degree. Because a large number of enzymes, transporters and other proteins are involved in glycosylation (both Winked and O-linked), it is expected that the great majority of congenital disorders of glycosylation (CDG) are yet to be identified. Many neurological patients with a CDG escape diagnosis for that reason, but also because existing screening methods fail to detect all patients with a known CDG. These disorders should be looked for in any patient, regardless of age, with an unexplained neurological disorder. Curr Opin Neurol 14:811-815. (C) 2001 Lippincott Williams Wilkins.