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

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

Publication types

  • Review

MeSH terms

  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / genetics*
  • Diagnosis, Differential
  • Glycosylation*
  • Humans