Fatty Acid Mitochondrial Disorders

C. Angelini, A. Federico, H. Reichmann, A. Lombes, C. Verney Saban, P. Chinnery, J. Vissing

Research output: Chapter in Book/Report/Conference proceedingChapter

Original languageEnglish
Title of host publicationEuropean Handbook of Neurological Management: Second Edition
Number of pages11
ISBN (Print)9781405185332
Publication statusPublished - Sep 6 2010


  • Analysis of acylcarnitines-in blood, using tandem mass spectrometry
  • Carnitine palmitoyltransferase (CPT) II deficiency
  • CPT II deficiency, in young adults-episodes of muscle pain and rhabdomyolysis triggered by prolonged exercise, fasting, cold or a combination of these
  • Fatty acid mitochondrial disorders
  • Lipid storage myopathies (LSMs), disease entities-biochemical defects being heterogeneous
  • Preventing episodes of myoglobinuria-achieved by avoiding strenuous exercise during fasting
  • Structural organization and mutational spectrum-of carnitine palmitoyltransferase II gene

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this