The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies

J Inherit Metab Dis. 2000 Jun;23(4):352-4. doi: 10.1023/a:1005627113617.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acute Kidney Injury / complications
  • Adult
  • Biopsy
  • Carnitine O-Palmitoyltransferase / analysis
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Humans
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Male
  • Muscle, Skeletal / enzymology*
  • Muscle, Skeletal / pathology
  • Myoglobinuria

Substances

  • Carnitine O-Palmitoyltransferase