Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: A new syndrome

Andrew G. Engel, Corrado Angelini

Research output: Contribution to journalArticle

374 Scopus citations

Abstract

In a rare myopathy muscle fibers contained myriad lipid-filled vacuoles. Homogenates of the patient's muscle oxidized fatty acids more slowly than normal (11 controls). Addition of carnitine increased the oxidation rate with the patient's muscle to the level attained by the controls with carnitine. In five separate muscle samples from the patient the mean carnitine level was less than 20 percent of that observed in 42 controls. Carnitine palmityl transferase and palmityl thiokinase levels in the patient's muscles were not depressed. The present case represents the first recognized instance of carnitine deficiency in human skeletal muscle.

Original languageEnglish (US)
Pages (from-to)899-902
Number of pages4
JournalScience
Volume179
Issue number4076
DOIs
StatePublished - Jan 1 1973

ASJC Scopus subject areas

  • General

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