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

Marieke Hoeksma*, Maartje Boon, Klary E. Niezen-Koning, Lidy van Overbeek-van Gils, Francjan J. van Spronsen

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

13 Citaten (Scopus)


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.

Originele taal-2English
Pagina's (van-tot)871-874
Aantal pagina's4
TijdschriftEuropean Journal of Pediatrics
Nummer van het tijdschrift8
StatusPublished - aug.-2007

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