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Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

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Abstract

An asymptomatic boy, aged 1.5 years, was referred with presumed liver disease because of persistently increased transaminase. Ultimately Pompe disease was confirmed, without specific abnormalities in muscle biopsy. This case demonstrates that increased transaminases do not always suggest liver disease. It is hard to determine prognosis and to decide whether enzyme replacement therapy should be started in asymptomatic patients with Pompe disease.

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Abbreviations

GAA:

acid alpha glucosidase

ASAT:

aspartate amino transferase

ALAT:

alanine amino transferase

CK:

creatine kinase

4-MU:

4-methylumbelliferyl

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Authors and Affiliations

  1. Section of Metabolic Diseases, Department of Paediatrics, Beatrix Children’s Hospital, University Medical Centre Groningen, P.O. box 30.001, 9700 RB, Groningen, The Netherlands

    Marieke Hoeksma & Francjan J van Spronsen

  2. Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands

    Maartje Boon

  3. Laboratory of Metabolic Diseases, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands

    Klary E Niezen-Koning

  4. Department of Paediatrics, Scheper Hospital, Emmen, The Netherlands

    Lidy van Overbeek-van Gils

Authors
  1. Marieke Hoeksma
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  2. Maartje Boon
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  3. Klary E Niezen-Koning
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  4. Lidy van Overbeek-van Gils
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  5. Francjan J van Spronsen
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Correspondence to Marieke Hoeksma.

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Hoeksma, M., Boon, M., Niezen-Koning, K.E. et al. Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease. Eur J Pediatr 166, 871–874 (2007). https://doi.org/10.1007/s00431-006-0315-9

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  • DOI: https://doi.org/10.1007/s00431-006-0315-9

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