Abstract
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 language | English |
|---|---|
| Pages (from-to) | 633-637 |
| Number of pages | 5 |
| Journal | Neurology |
| Volume | 26 |
| Issue number | 7 |
| Publication status | Published - 1976 |
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology
- Neuroscience(all)