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
PublisherWiley-Blackwell
Pages501-511
Number of pages11
Volume1
ISBN (Print)9781405185332
DOIs
Publication statusPublished - Sep 6 2010

Keywords

  • 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

Angelini, C., Federico, A., Reichmann, H., Lombes, A., Verney Saban, C., Chinnery, P., & Vissing, J. (2010). Fatty Acid Mitochondrial Disorders. In European Handbook of Neurological Management: Second Edition (Vol. 1, pp. 501-511). Wiley-Blackwell. https://doi.org/10.1002/9781444328394.ch37