Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production

N Engl J Med. 1978 Mar 9;298(10):553-7. doi: 10.1056/NEJM197803092981007.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acyltransferases / deficiency*
  • Adult
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Creatine Kinase / blood
  • Fasting
  • Glycogen Debranching Enzyme System / analysis
  • Humans
  • Ketone Bodies / biosynthesis
  • Male
  • Muscles / analysis
  • Muscles / enzymology*
  • Myoglobinuria / enzymology*
  • Recurrence
  • Triglycerides / blood

Substances

  • Glycogen Debranching Enzyme System
  • Ketone Bodies
  • Triglycerides
  • Acyltransferases
  • Carnitine O-Palmitoyltransferase
  • Creatine Kinase