Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry

J Inherit Metab Dis. 1999 Dec;22(8):941-2. doi: 10.1023/a:1005655927639.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carnitine / blood*
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Esters / blood
  • Fatty Acids / blood
  • Humans
  • Male
  • Mass Spectrometry
  • Metabolism, Inborn Errors / enzymology*
  • Middle Aged
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics
  • Myoglobinuria / etiology
  • Myoglobinuria / genetics

Substances

  • Esters
  • Fatty Acids
  • Carnitine O-Palmitoyltransferase
  • Carnitine