A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

Rajinder Singh, Isobel M. Shepherd, Jerry P. Derrick, Rona R. Ramsay, H. Stanley A. Sherratt*, Douglas M. Turnbull

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)

Abstract

A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-3H]palmitate or of [1-14C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.

Original languageEnglish
Pages (from-to)126-130
Number of pages5
JournalFEBS Letters
Volume241
Issue number1-2
DOIs
Publication statusPublished - 5 Dec 1988

Keywords

  • (Skeletal muscle)
  • Carnitine palmitoyltransferase deficiency
  • Carnitine palmitoyltransferase II
  • Mitochondria

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