Journal of Inherited Metabolic Disease

, Volume 28, Issue 6, pp 1197–1198 | Cite as

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

  • M. Jackson
  • P. Clayton
  • S. Grunewald
  • G. Keir
  • K. Mills
  • P. Mills
  • B. Winchester
  • V. Worthington
  • E. Young
Short Report

Summary

Elevated plasma aspartylglucosaminidase activity was found in 21/25 cases of CDG Ia, in single cases of CDG Ib, Ic and If, and in 15/16 cases of CDG Ix. The CDG I patients in whom the activity was not raised were either atypical clinically (CDG Ia) or very young (CDG Ih).

Keywords

Public Health Internal Medicine Congenital Disorder Metabolic Disease Single Case 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Clayton P, Winchester B, di Tomaso M, Young E, Keir G, Rodeck C (1993) Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341: 956.PubMedGoogle Scholar
  2. Jaeken J (2003) Congenital disorders of glycosylation (CDG): Its all in it! J Inherit Metab Dis 26: 99–118.PubMedCrossRefGoogle Scholar
  3. Stibler H, Jaeken J, Kristiansson B (1991) Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375: 21–31.Google Scholar

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • M. Jackson
    • 1
  • P. Clayton
    • 2
  • S. Grunewald
    • 2
  • G. Keir
    • 3
  • K. Mills
    • 4
  • P. Mills
    • 4
  • B. Winchester
    • 4
  • V. Worthington
    • 3
  • E. Young
    • 1
    • 4
  1. 1.The Enzyme LaboratoryGreat Ormond Street Hospital NHS TrustLondon
  2. 2.Metabolic UnitGreat Ormond Street Hospital NHS TrustLondon
  3. 3.National Hospital for Neurology and Neurosurgery NHS TrustLondon
  4. 4.Biochemistry, Endocrinology and Metabolism UnitInstitute of Child Health (University College London)LondonUK

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