Original Article

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

  1. S. Grünewald MD1,2,
  2. T. Imbach MD4,
  3. K. Huijben5,
  4. M. E. Rubio-Gozalbo MD6,
  5. A. Verrips MD6,
  6. J. B. C. De Klerk MD7,
  7. H. Stroink MD7,
  8. J. F. De Rijk-Van Andel MD8,
  9. J. L. K. Van Hove MD, PhD3,
  10. U. Wendel MD, PhD1,
  11. G. Matthijs PhD2,
  12. T. Hennet PhD4,
  13. J. Jaeken MD, PhD3,
  14. R. A. Wevers PhD5,*

Article first published online: 9 MAY 2001

DOI: 10.1002/1531-8249(200006)47:6<776::AID-ANA10>3.0.CO;2-5

Issue

Annals of Neurology

Annals of Neurology

Volume 47, Issue 6, pages 776–781, June 2000

Additional Information

How to Cite

Grünewald, S., Imbach, T., Huijben, K., Rubio-Gozalbo, M. E., Verrips, A., De Klerk, J. B. C., Stroink, H., De Rijk-Van Andel, J. F., Van Hove, J. L. K., Wendel, U., Matthijs, G., Hennet, T., Jaeken, J. and Wevers, R. A. (2000), Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Annals of Neurology, 47: 776–781. doi: 10.1002/1531-8249(200006)47:6<776::AID-ANA10>3.0.CO;2-5

Author Information

  1. 1

    Department of Pediatrics, Heinrich-Heine University Düsseldorf, Germany

  2. 2

    Center for Human Genetics, University of Leuven, Leuven, Belgium

  3. 3

    Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium

  4. 4

    Institute of Physiology, University of Zurich, Switzerland

  5. 5

    Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Nijmegen, The Netherlands

  6. 6

    Department of Metabolic Diseases and Department of Pediatric Neurology, University Hospital Nijmegen, Nijmegen, The Netherlands

  7. 7

    Sophia Children's Hospital, Rotterdam, The Netherlands

  8. 8

    Department of Neurology, Ignatius Hospital, Breda, The Netherlands

*University Hospital Nijmegen, Laboratory of Pediatrics and Neurology, Institute of Neurology, PO Box 9101, NL-6500 HB Nijmegen, The Netherlands

Publication History

  1. Issue published online: 9 MAY 2001
  2. Article first published online: 9 MAY 2001
  3. Manuscript Accepted: 11 FEB 2000
  4. Manuscript Revised: 7 FEB 2000
  5. Manuscript Received: 16 NOV 1999

Funded by

  • Milupa GmbH & Co KG (Germany)
  • Flanders Fund for Scientific Research (FWO, Belgium). Grant Number: G0234398

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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, β-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 α-1,3 glucosyltransferase deficiency. All patients were homozygous for an A333V mutation. Ann Neurol 2000;47:776–781

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