Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature

J Paediatr Child Health. 2012 Oct;48(10):886-90. doi: 10.1111/j.1440-1754.2010.01730.x. Epub 2010 May 24.


The aim of this study was to call the attention to the often disregarded message that hypertransaminasemia may be a marker of both liver and muscle diseases by presenting personal case reports and a systematic literature review. Three male children (mean age 5.7 years) were inappropriately addressed, during the last 12 months, to our paediatric liver unit for diagnostic work-up of a chronic hypertransaminasemia of unknown origin. In one of them, a liver biopsy had already been performed. On admission, physical examination, evaluation of serum levels of creatine kinase, and dystrophin genetic testing finally led to a diagnosis of muscular dystrophy. One hundred fourteen similar cases, 21 with unnecessary liver biopsy, were found by Medline search. Expensive and invasive tests planned to investigate liver diseases should be postponed until alternative sources of increased serum aminotransferases, primarily myopathic injury, have been excluded.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Biomarkers / blood
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Humans
  • Liver Diseases / blood
  • Liver Diseases / diagnosis*
  • Male
  • Muscular Dystrophy, Duchenne / blood
  • Muscular Dystrophy, Duchenne / diagnosis*
  • Transaminases / blood*


  • Biomarkers
  • Transaminases