Congenital disorders of glycosylation: the rapidly growing tip of the iceberg
- 1 December 2001
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Neurology
- Vol. 14 (6) , 811-815
- https://doi.org/10.1097/00019052-200112000-00021
Abstract
In addition to many other organs, the brain is affected in 10 of the 11 known congenital disorders of N-linked glycosylation, mostly to a severe degree. Because a large number of enzymes, transporters and other proteins are involved in glycosylation (both N-linked 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.Keywords
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