Carnitine deficiency of skeletal muscle: Report of a treated case

C. Angelini, S. Lücke, F. Cantarutti

Research output: Contribution to journalArticlepeer-review


We studied a 10-year-old girl with an insidious muscle disease beginning at age 7. Muscle biopsy showed that the majority of type I fibers were vacuolated and contained lipid excess. Carnitine deficiency was found in skeletal muscle. The patient was treated with 3.0 gm L-carnitine per day and with a medium-chain triglyceride diet. She showed a rapid improvement and recovery of strength. A muscle biopsy 8 months later showed a decreased lipid content. Oral carnitine replacement represents an effective treatment for the disease.

Original languageEnglish
Pages (from-to)633-637
Number of pages5
Issue number7
Publication statusPublished - 1976

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)


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