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Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia

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Journal of Inherited Metabolic Disease

Summary

A follow-up over 7 years on a patient with congenital disorder of glycosylation type Ia showed a significant normalization of hypoglycosylated transferrin. Isoelectric focusing for serum transferrin is a widely used screening method but there could be a limit of detection and the subtle changes can be also overlooked. Re-test with a different method is desirable, especially when the clinical suspicion for congenital disorder of glycosylation is high.

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References

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Authors and Affiliations

  1. Departments of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    S. H. Hahn

  2. Departments of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    S. H. Hahn

  3. Departments of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    S. H. Hahn

  4. Departments of Laboratory Medicine and Pathology, USA

    S. J. Minnich & J. F. O’Brien

Authors
  1. S. H. Hahn
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  2. S. J. Minnich
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  3. J. F. O’Brien
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Corresponding author

Correspondence to S. H. Hahn.

Additional information

Communicating editor: Verena Peters

Competing interests: None declared

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Hahn, S.H., Minnich, S.J. & O’Brien, J.F. Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 29, 235–237 (2006). https://doi.org/10.1007/s10545-006-0210-6

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  • DOI: https://doi.org/10.1007/s10545-006-0210-6

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