Title: Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Authors: Grünewald, S ×
Imbach, T
Huijben, K
Rubio-Gozalbo, M E
Verrips, A
de Klerk, J B
Stroink, H
de Rijk-van Andel, J F
Van Hove, J L
Wendel, U
Matthijs, Gert
Hennet, T
Jaeken, Jacques
Wevers, R A #
Issue Date: Jun-2000
Publisher: American Neurological Association
Series Title: Annals of Neurology vol:47 issue:6 pages:776-81
Abstract: We report on 8 patients with a recently described novel subtype of congenital disorder of glycosylation type Ic (CDG-Ic). Their clinical presentation was mainly neurological with developmental retardation, muscular hypotonia, and epilepsy. Several symptoms commonly seen in CDG-Ia such as inverted nipples, abnormal fat distribution, and cerebellar hypoplasia were not observed. The clinical course is milder overall, with a better neurological outcome, than in CDG-Ia. The isoelectric focusing pattern of serum transferrin in CDG-Ia and CDG-Ic is indistinguishable. Interestingly, beta-trace protein in cerebrospinal fluid derived from immunoblot analysis of the brain showed a less pronounced hypoglycosylation pattern in CDG-Ic patients than in CDG-Ia patients. Analysis of lipid-linked oligosaccharides revealed an accumulation of Man9GlcNAc2 intermediates due to dolichol pyrophosphate-Man9GlcNAc2 alpha-1,3 glucosyltransferase deficiency. All patients were homozygous for an A333V mutation.
ISSN: 0364-5134
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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