Carnitine deficiency of skeletal muscle: report of a treated case

Neurology. 1976 Jul;26(7):633-7. doi: 10.1212/wnl.26.7.633.


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.

Publication types

  • Case Reports

MeSH terms

  • Carnitine / deficiency*
  • Carnitine / therapeutic use
  • Child
  • Female
  • Humans
  • Mitochondria, Muscle / ultrastructure
  • Muscles / ultrastructure
  • Muscular Diseases / drug therapy
  • Muscular Diseases / metabolism*
  • Muscular Diseases / pathology
  • Syndrome
  • Vacuoles / ultrastructure


  • Carnitine

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