Biochemical and physiologic consequences of carnitine palmityltransferase deficiency

James Edwin Carroll, Michael H. Brooke, Darryl C. DeVivo, Kenneth K. Kaiser, James M. Hagberg

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

A patient with a long history of exercise‐induced pain developed myoglobinuria and respiratory failure following extensive exercise (football). Although muscle histochemistry was normal, tissue oxidation of 14Clabeled palmitate was decreased, and muscle carnitine palmityltransferase (CPT) activity was one‐tenth of normal. During fasting, his creatine kinase (CK) rose from 127 mu/ml to 278 mu/ml and blood ketones failed to exhibit a normal rise. Triglycerides were normal, as was fatty‐acid mobilization. Prolonged exercise resulted in an inordinately increased CK with only moderate elevations in lactate. Treatment with medium‐chain triglycerides did not alter his symptoms or improve exercise performance. Pain on exercise is a common complaint, but the occurrence of myoglobinuria points to a defect of energy metabolism. Screening for defects of fat utilization may be accomplished by the prolonged‐exercise test, invitro oxidation of 14C‐labeled substrates, and prolonged fasting.

Original languageEnglish (US)
Pages (from-to)103-110
Number of pages8
JournalMuscle & Nerve
Volume1
Issue number2
DOIs
StatePublished - Jan 1 1978

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Carnitine
Myoglobinuria
Exercise
Creatine Kinase
Fasting
Triglycerides
Pain
Muscles
Football
Palmitates
Ketones
Respiratory Insufficiency
Energy Metabolism
Lactic Acid
Fats
Therapeutics

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

Biochemical and physiologic consequences of carnitine palmityltransferase deficiency. / Carroll, James Edwin; Brooke, Michael H.; DeVivo, Darryl C.; Kaiser, Kenneth K.; Hagberg, James M.

In: Muscle & Nerve, Vol. 1, No. 2, 01.01.1978, p. 103-110.

Research output: Contribution to journalArticle

Carroll, James Edwin ; Brooke, Michael H. ; DeVivo, Darryl C. ; Kaiser, Kenneth K. ; Hagberg, James M. / Biochemical and physiologic consequences of carnitine palmityltransferase deficiency. In: Muscle & Nerve. 1978 ; Vol. 1, No. 2. pp. 103-110.
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