Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy.
A 23-year-old woman became quadriplegic and respirator-dependent after 18 years of weakness and rhabdomyolysis. Her muscle tissue and that of a deceased sister contained lipid-laden fibers. Treatment with D,L-carnitine 4 grams per day was followed by a dramatic improvement within 10 days. Muscle function was normal at 8 months and has remained so during 3 subsequent years of L-carnitine 3 grams per day. Pretreatment muscle biopsy had documented low levels of free carnitine and short-chain acylcarnitine compounds. Carnitine palmityltransferase was slightly elevated. The asymptomatic parents had low-normal muscle carnitine levels, slight increase in muscle fiber lipid droplets, osmiophilic lipid-laden Schwann's cell vacuoles, and myelin lamellae with different periodicities.
D000328:Adult; D002331:Carnitine / Q000172:deficiency / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000188:drug therapy* / Q000378:metabolism; D011782:Quadriplegia / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology; D012206:Rhabdomyolysis / Q000188:drug therapy / Q000378:metabolism
D002331:Carnitine