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Curr Opin Neurol. 2001 Dec;14(6):811-5.

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

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Department of Pediatrics, Centre for Metabolic Disease, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Herestraat 49, B-3000 Leuven, Belgium.


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.

[Indexed for MEDLINE]

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