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Increased Carbohydrate-deficient Transferrin Concentration and Abnormal Protein Glycosylation of Unknown Etiology in a Patient with Achondroplasia

¹ Department for Neuropediatrics and Inherited Metabolic Diseases, University Children’s Hospital, Deutschhausstrasse 12, D-35033 Marburg, Germany

² Department of Internal Medicine, and Cardiology, University Hospital, Baldingerstrasse, D-35033 Marburg, Germany
^a Address correspondence to this author at: c/o Dr. R. Surtees, Institute of Child Health, University College London, The Wolfson Centre, Mecklenburgh Square, GB-London WC1N 2AP, United Kingdom. Fax 44-171-833-9469; e-mail Verena_Peters@med.uni-heidelberg.de.

To the Editor:

We report the observation of abnormal protein glycosylation in a patient with achondroplasia in whom known causes of impaired glycosylation could not be found. Automated isoelectric focusing (IEF) was performed in our laboratory for the investigation of glycosylation disturbances of transferrin (1)(2). All procedures were carried out in accordance with the Helsinki Declaration of 1975 as revised in 1996. We used surplus serum samples as controls, and surprisingly, in one of those, IEF revealed a moderate increase in disialotransferrin and a slight increase in asialotransferrin (Fig. 1 , lane 1) compared with control serum (Fig. 1 , lane 2). A similar IEF pattern has been described, e.g., in alcohol abuse (3) or in carbohydrate-deficient glycoprotein (CDG) syndrome (4). The patient’s isotransferrin pattern had been stable in different blood samples for more than 3 years. The hypoglycosylation of transferrin was confirmed by an increased carbohydrate-deficient transferrin (CDT) concentration of 44 units/L (upper reference limit, 20 units/L) determined by the CDTect assay (Pharmacia & Upjohn).

View larger version (53K): [in this window] [in a new window]   Figure 1. Fe2-isotransferrin (Fe2-Tf) band patterns in serum and cerebrospinal fluid (CSF) obtained by automated IEF. CSF serves as reference for the localization of isotransferrin bands. Lane 1, patient’s serum; lane 2, control serum.

Clinically, the patient was a 41-year-old man in good general health. His past history included well-controlled arterial hypertension . . . [Full Text of this Article]

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The following articles in journals at HighWire Press have cited this article:

				B. Wuyts, J. R. Delanghe, I. Kasvosve, A. Wauters, H. Neels, and J. Janssens Determination of Carbohydrate-deficient Transferrin Using Capillary Zone Electrophoresis Clin. Chem., February 1, 2001; 47(2): 247 - 255. [Abstract] [Full Text] [PDF]

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