Inborn errors of metabolism for the diagnostic radiologist

Pediatr Radiol. 2009 Mar;39(3):211-20. doi: 10.1007/s00247-008-1072-x. Epub 2008 Dec 13.


Inherited metabolic disorders are becoming more important with the increasing availability of diagnostic methods and therapies for these conditions. The radiologist has become an important link in making the diagnosis or collaborating with the specialist centre to diagnose these disorders and monitor effects of therapy. The modes of presentation, disease-specific groups, classic radiological features and investigations are explored in this article to try and give the general radiologist some crucial background knowledge. The following presentations are covered: acute intoxication, hypoglycaemia, developmental delay and storage features. Specific groups of disorders covered are the abnormalities of intermediary metabolism, disorders of fatty acid oxidation and ketogenesis, mitochondrial disorders, lysosomal storage disorders, and, briefly, other groups such as peroxisomal disorders, disorders of glycosylation, and creatine synthesis disorders. New advances and the demands for monitoring are also briefly explored.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Diagnostic Imaging*
  • Humans
  • Infant
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnosis*
  • Neonatal Screening