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

Eur J Pediatr. 2007 Aug;166(8):871-4. doi: 10.1007/s00431-006-0315-9. Epub 2006 Oct 17.


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.

Publication types

  • Case Reports

MeSH terms

  • Alanine Transaminase / blood*
  • Aspartate Aminotransferases / blood*
  • Creatine Kinase / blood
  • Glucan 1,4-alpha-Glucosidase / deficiency*
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / enzymology
  • Humans
  • Infant
  • Male


  • Aspartate Aminotransferases
  • Alanine Transaminase
  • Creatine Kinase
  • Glucan 1,4-alpha-Glucosidase