Carnitine deficiency of skeletal muscle: report of a treated case.
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.
D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use; D002648:Child; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000188:drug therapy / Q000378:metabolism* / Q000473:pathology; D013577:Syndrome; D014617:Vacuoles / Q000648:ultrastructure
D002331:Carnitine