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 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.
Jaeken
J
J
Department of Pediatrics, Centre for Metabolic Disease, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Herestraat 49, B-3000 Leuven, Belgium. jaak.jaeken@uz.kuleuven.ac.be
Carchon
H
H
D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006031:Glycosylation; D006801:Humans