title: Muscle carnitine deficiency in old age. Case report and therapeutic results.
abstract: A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay. Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later. Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully.
mesh_terms: D000368:Aged; D001706:Biopsy; D002331:Carnitine / Q000172:deficiency*; D004576:Electromyography; D006801:Humans; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy / Q000473:pathology; D009468:Neuromuscular Diseases / Q000473:pathology*; D014617:Vacuoles / Q000648:ultrastructure
chemical_list: D002331:Carnitine