Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency

Muscle Nerve. 1985 Oct;8(8):672-5. doi: 10.1002/mus.880080809.

Abstract

In a reported patient with myopathic carnitine deficiency, addition of exogenous carnitine to muscle homogenates failed to correct palmitate oxidation, and oral carnitine was of no clinical benefit. In a muscle biopsy from this patient, we found that, in contrast to the marked deficiency of free carnitine (3% of normal) short- and medium-chain acylcarnitines were in the normal range and long-chain acylcarnitine was increased almost four times. As this result confirmed the hypothesis of a muscle defect of mitochondrial oxidation of palmitate, all eight enzymes of beta-oxidation were measured spectrophotometrically in the muscle extract. None of them was found to be defective. These data suggest that the underlying biochemical abnormality in this patient may be a deficiency of the carnitine-acylcarnitine translocase system or a defective interaction between acyl-CoA dehydrogenase and its flavoprotein coenzyme.

Publication types

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

MeSH terms

  • Acyltransferases / metabolism*
  • Adult
  • Carnitine / deficiency*
  • Carnitine / metabolism
  • Carnitine O-Palmitoyltransferase / metabolism*
  • Child, Preschool
  • Coenzyme A Ligases / metabolism*
  • Female
  • Humans
  • Long-Chain-Fatty-Acid-CoA Ligase
  • Muscles / enzymology*
  • Muscles / pathology
  • Muscular Diseases / enzymology*
  • Neuromuscular Diseases / enzymology
  • Reference Values
  • Repressor Proteins*
  • Saccharomyces cerevisiae Proteins*

Substances

  • Repressor Proteins
  • Saccharomyces cerevisiae Proteins
  • Acyltransferases
  • Carnitine O-Palmitoyltransferase
  • Coenzyme A Ligases
  • FAA2 protein, S cerevisiae
  • Long-Chain-Fatty-Acid-CoA Ligase
  • Carnitine