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Neuropediatrics 2001; 32(6): 313-318
DOI: 10.1055/s-2001-20407
Original Article

Georg Thieme Verlag Stuttgart · New York

A New Subtype of a Congenital Disorder of Glycosylation (CDG) with Mild Clinical Manifestations

B. Assmann1 [*] , R. Hackler2 [*] , V. Peters1 , J. R. Schaefer2 , T. Arndt3 , E. Mayatepek1 , J. Jaeken4 , G. F. Hoffmann1
  • 1 University Children's Hospital, Division of Metabolic and Endocrine Diseases, Heidelberg, Germany
  • 2 University Hospital of Internal Medicine, Department of Cardiology, Marburg, Germany
  • 3 bioscientia GmbH, Ingelheim, Germany
  • 4 University Hospital, Centre for Metabolic Disease, Gasthuisberg, Leuven, Belgium
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Publication History

Publication Date:
27 February 2002 (online)

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Abstract

A boy with an unspecific symptomatology consisting of mental retardation, strabismus, hypotonia and mild ataxia was diagnosed with a congenital disorder of glycosylation (CDG). Neither cerebellar atrophy nor dysmorphic features were present. The serum transferrin band pattern obtained by isoelectric focusing (IEF) showed a strongly elevated disialotransferrin band together with only slightly elevated asialotransferrin, thus a type 1 pattern. This is a new CDG classified CDG-x since CDG-Ia, -b, -c, -d and -e were excluded. Quantitative differences to the type 1 pattern of a CDG-Ia patient with a moderate to severe course were confirmed by densitometric evaluation of the gels and by SDS gel electrophoresis. Liver biopsy showed lysosomal inclusions suggesting a pre-Golgi defect. This patient's case supports the approach to include isoelectric focusing of serum transferrin in the diagnostic work-up of patients with unexplained symptoms.

Congenital disorders of glycosylation · Carbohydrate deficient glycoprotein syndrome · CDG · Isoelectric focusing · IEF · Carbohydrate deficient transferrin

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1 The first two authors contributed equally to this work.

Dr. B. Assmann

Division of Metabolic and Endocrine Diseases, University Children's Hospital

Im Neuenheimer Feld 150

69120 Heidelberg

Germany

Email: Birgit_Assmann@med.uni-heidelberg.de